#genetic mutation

[fyanimaldiversity]

Bilateral gynandromorph carpenter bee [x]

[horygory]

The Thing (1982)

[omg-snakes]

you mentioned previously that sunglow amels are no longer a thing because of bad breeders- can you expand on this? thanks, snake noob (snoob)

Hello friend!

The shortest possible (grossly oversimplified for brevity) answer is that there are two pathways by which notable color morphs in corn snakes can occur: genetic mutation and selective breeding to enhance natural variation. Mutation is when a specific gene affects one or more specific pigments in a snake's cells. Amelanism is a really great example since it's a simple recessive gene. If the correct genetic "switches" are flipped in a snake's DNA, then the snake has no melanin and is therefore red, orange, yellow, and white with no black pigment. It's a true/false scenario.

The other color morph pathway is selective breeding, where many incomplete dominant genes are at play simultaneously, and the snakes that display the most desired traits are bred to amplify those traits. There's always natural variation among offspring, even if they have the same phenotype. Two amelanistic snakes from the same clutch might look a bit different even though both are definitely Amels.

Think of it like you have a garden full of pink flowers, and some of them are slightly, slightly more pink tinging on red. You decide to put the reddest-flowered plants together and only plant their seeds next season, and then choose the reddest-flowered offspring for the season after that, and so on until you have all red flowers!

Several popular morphs and all of the locality morphs are the result of this type of selective breeding. Unfortunately, these do require conscious and intentional breeding to maintain the look of these lines. Since they're not "on/off" genes, there are no heterozygous individuals and a selectively bred morph won't "pop up" suddenly by surprise in a clutch the way recessive gene mutations sometimes do.

Sunglow Amel is noteworthy for super bright orange coloration with low contrast, high saturation, and absent saddle borders. You can outcross a Sunglow (or any selectively-bred morph, they don't have to be inbred), but you'd need to choose snakes with bright color and minimal borders and then breed those back into the line or it'll basically undo the work of all previous selection. To go back to our garden analogy, if you took one of the red flowers you'd worked so hard to develop and pollinated them repeatedly over generations with the original pink-flowered plants, you'd get less and less red and eventually regular pink flowers.

Reverse Okeetee is another selectively-bred Amel morph, which focuses on bold, thick saddle borders and high saddle to background color contrast. Think of these like white flowers that were selectively-bred from the pink flowers in our garden.

So what happens if you breed a Sunglow Amel with low contrast and no borders (red flower) and a Reverse Okeetee with high contrast and thick borders (white flower)?

You get something in the middle: an average Amel (original normal pink flower).

A bad breeder who doesn't understand inheritance or genetics might do this exact thing and try to sell their regular Amels as "het Sunglow, het Okeetee."

I have literally seen these for sale recently.

[babessinfoihand]

[butch-reidentified]

Sotos Syndrome: An Educational Post on a Rare Genetic Disorder

Hey so, to follow up on the last reblog I added to this post about my wife: I realize most of you probably haven't heard of Sotos Syndrome, so I thought I'd talk a little about what it is and how it affects her. I'll put a couple of links here, but also briefly cover what it is and how she experiences it. She's given me permission to discuss it, and y'all are welcome to ask questions. If I can't answer them, I'll tag her in to help.

Note: She is also diagnosed with hEDS and POTS. This will be relevant later.

Sotos Syndrome is a rare condition resulting from a genetic mutation on chromosome 5 - specifically of the NSD1 gene. There are thought to be a wide variety of ways this gene mutation can occur and cause Sotos Syndrome, and the condition can manifest somewhat differently with different NSD1 mutations.

At the core of the disorder is rapid overgrowth in childhood; patients are taller and often heavier than their peers, and grow far faster. In some cases, this advanced growth timeline starts in the womb, and in other cases may start shortly after birth. Individuals with Sotos Syndrome typically have a larger cranial circumference than normal as well, though this often normalizes in adolescence or adulthood. The overgrowth almost always normalizes in adolescence or adulthood as well - patients usually reach a final height only slightly taller than would be expected of a healthy individual of the same sex and genetics. That is to say, the patient often ends up being on the tall end of normal, or a little taller, compared to other family members of the same sex.

Sotos Syndrome doesn't only cause rapid overgrowth; it affects bone development in several ways. Patients often have larger and heavier bones than average, large hands, and flat feet, as well as vertebral abnormalities (my wife suffers significant back pain due to several malformed vertebrae). Sotos Syndrome also almost always presents with specific facial features: a slight downward slant in the outer corners of the eyes, an enlarged forehead/brow bone, a pointed chin, a narrow face, thinner hair on the anterior (front) portion of the scalp, to name a few. These are usually most distinct when the patient is young, but typically some aspects are still noticeably present into adulthood (particularly the forehead and chin).

Children with Sotos Syndrome often experience developmental delays in a variety of areas, including speech/language, motor skills, social skills, and more. Some patients have intellectual disabilities, while others have normal intellectual and cognitive capabilities. Many have learning disorders such as ADHD, dyslexia, or dyscalculia. My wife has ADHD, dyslexia, and a communication issue (which we unfortunately don't have answers to from any doctor yet) that presents as fairly similar to aphasia. Some patients, especially as children, display "autistic-like behaviors" despite not actually having autism. My wife and I disagree on whether this is true of her (I, the actual autist of the relationship, think it is, but mildly). It can also cause anxiety (which she definitely has) and aggressive tendencies (which she couldn't possibly have less of).

Individuals with Sotos Syndrome often struggle with coordination and motor skills to varying degrees. Before knowing about her condition, I thought my wife was just the clumsiest person I'd ever met. As annoying as I'm sure that is for her, it also means that I often wind up with an accidental elbow to the face due to the combination of her lack of coordination and our size difference 🥲 Seizures and tremors are also a somewhat common problem. My wife has had a couple of seizures in the past, but typically only suffers from very occasional arm tremors. She also spontaneously loses her grip strength from time to time. I haven't seen this last one documented specifically as a symptom, but her neurologist says it's likely related. At least we have a good excuse to never own expensive glassware!

Another frequent symptom of Sotos Syndrome is joint laxity - an obvious overlap with EDS. I've been unable so far to find any documentation regarding the comorbidity of the two, but she has numerous EDS symptoms other than the joint issues, so our EDS specialist diagnosed it. She has hypotonia (reduced muscle tone) as well, a very common Sotos symptom. If she and a healthy woman lifted weights for the same amount of time, using the same regimen/diet/everything, she would see a fraction of the progress the other woman would. Her near-sightedness and mildly impaired hearing are also likely caused by this disorder, though EDS can impact hearing as well, and near-sightedness is not uncommon in general (and runs in her family, though strangely only in the women). Other possible symptoms include various tumors, acid reflux, and thickened skin, bone, and/or subcutaneous tissues.

I'm gonna wrap this up for now, though there are many more things I could dive into about this condition, but I may edit and add more later when I'm less exhausted. I hope this has been educational, and again, please feel free to ask me/us anything! 💓

[moonchildjelly]

I was reading some things on ig and now I'm confused and curious

If u had twins and one of they is diagnosed with some neurodivergent thing that don't mean that both of them are neurodivergent?

I'm very confuse because I was reading parents of twins saying that they have just one neurodivergent kid.. And sure I'm not good in genetics but I can't understand how that is possible

I'm more curious because I have a big chance of having twins and I'm sure they will be neurodivergent like me... So I'm so confuse about everything I thought I know about twins

[mutilamb]

[michaelpyromaniacal]

so i’m kind of panicking right now because i’m doing a science fair project on the gene that gives siamese cats the color pattern in their fur and we waited too long to infiltrate the siamese cats facebook group and now i don’t have the pictures i need for data collection so if anyone has a siamese cat, especially if it’s an outdoor cat, would you be willing to send pictures? I need two pictures, one taken in the summer and one in the winter, both with the same limb visible, and I need to know whether the cat lives indoor or outdoor and about where the cat lives - preferably as a line of latitude. I will trade pictures of my cats if you would like.

[nerds-yearbook]

In 1987, a secret group within the government working on alien/human hybrid research injected children in an undisclosed southern state with alien clone DNA. Their parents thought their children were just receiving a normal inoculation. ("The Erlenmeyer Flask", X-Files, TV)

[bpod-bpod]

Blind Mice

Retinitis pigmentosa is one of the most common causes of inherited vision deterioration in humans. Because the disease is caused by genetic mutation, and because there is no cure, scientists consider it to be a good candidate for gene therapy, specifically gene editing – where a mutation can be corrected in target cells (in this case retinal cells) with molecular tools that replace the errant DNA sequence. And now, proof-of-principle experiments for such a treatment have been carried out in mice, with the animals’ vision being successfully restored. Notice the thin, degraded retina of an untreated mouse with retinitis pigmentosa (left), and the thicker, healthier retina with abundant photoreceptor cells (red) after gene editing (right). While many steps exist between these results and the clinic, the work provides hope that such a molecular fix may one day restore vision in patients too.

Written by Ruth Williams

Image from work by Huan Qin, Wenliang Zhang, Shiyao Zhang & Yuan Feng and colleagues

Institute of Visual Neuroscience and Stem Cell Engineering, Wuhan University of Science and Technology, Wuhan, China

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Research published in the Journal of Experimental Medicine, March 2023

You can also follow BPoD on Instagram, Twitter and Facebook

[fyanimaldiversity]

Chimeric Labrador retriever (Canis lupus familiaris) [x]

[livingwithmbc]

Living with Metastatic Breast Cancer (MBC)

The past few years have been rocky to put it mildly, not just as a nation or planet, but also personally.

I'm creating this space to share periodic updates and glimpses into what it's like living with metastatic breast cancer (referred to as MBC going forward because I'm lazy and don't like typing it every time) and whatever else I feel like. I don't promise to post consistently, only as I find it helpful and have the time and energy. I do, however, promise to be real, honest, crass, and vulnerable about my experiences. I curse like a sailor and if that isn't for you, no hard feelings, but this may not be the space for you, and that's perfectly okay. I don't particularly enjoy writing, nor am I great at it, but I recognize its value and how cathartic it can be. I've always been a naturally private person as I enjoy my quiet life, but there's nothing private about having BC. Appointment after I'm appointment I remove my shirt and bra as it seems like just about every medical professional needs to feel my breast lump. Just as cancer has invaded my breast, medical traumas began invading my life. Privacy seems almost comical these days, and I was living in denial while thinking I could do this all on my own without needing the support of my friends and family. I was very wrong. I didn't (and still don't) want pity from others. Life never promised to be fair. We don't choose the cards life deals us, but it's up to us to play the hell out of those cards, and I've got a killer poker face. So ask me the questions and I'll respond when I can. This is not a journey in which it's helpful to go it alone and if anything, it's detrimental to try. Something else noteworthy is that I have ADHD (thanks, dad!). As someone with ADHD, my brain jumps around. A lot. This is evident when talking with me but also in my writing as well. Bear with me and welcome to the shitshow.

For those of you that don't know me well (or perhaps at all), I turned 33 last month and work as a mental health counselor in Indiana. I've been married to my saint of a spouse for just shy of a decade and he's been my rock. In 2020, I was gearing up to graduate with my master's in clinical mental health counseling with plans to begin our family shortly thereafter. Unfortunately, the universe had other plans.

During the summer of 2020, my spouse was diagnosed with non-Hodgkins Lymphoma at age 30, after being short of breath for no clear reason, and being gaslit by medical professionals for several months about not feeling well. To say this was a shock was an understatement. Only old people get cancer, I thought, not seemingly healthy and active 30-year-olds. Our plans to begin trying to conceive were temporarily tabled as the focus shifted to my husband's health. I was devastated but chanted the mantra, "this too shall pass". We were told we had to wait at least 2 years to try to have kids due to the intense medications and treatments he was on. He spent months doing aggressive rounds of chemo, all while working almost full time. To say he's my hero would be putting it mildly. It's been about 2 years since his diagnosis and I'm thrilled to report he's still in remission!

Fast forward to early 2022. I noticed some dimpling under one of my breasts, but genuinely didn't think too much of it. Historically speaking, I've never been an overly anxious person, and typically don't worry much until there's truly something to worry about. My spouse encouraged me to schedule an appointment ASAP (he's the worrier). I already had an OB appointment upcoming so I planned to discuss the dimpling then as my neurodivergent brain couldn't handle making more phone calls for appointments and things. Unfortunately, the doctor felt a lump (I couldn't) and the ensuing weeks and months would prove to be an overwhelming whirlwind of fears, appointments, and uncertainties.

I like to think I have a good sense of humor, even if it's dark (I'd argue you have to have dark humor to survive in the mental health field). On Friday the 13th of May I was told my breast biopsy confirmed the worst: I have invasive ductile carcinoma. Jason was nowhere in sight but I would have been more accepting of his existence than me having cancer. I'll never forget the look of pity on the nurse's face delivering that news. I could tell she was going out of her way to try and make me feel better about the diagnosis, saying things along the lines of, "it was caught early, you won't die. You'll be fine." I remember taking the news surprisingly well and not being too phased by it. "I'm going to kick cancer's ass," I thought. I'm stubbornly determined when I set my mind to a task and cancer was no different in my mind. Mind over matter, as they say. Hell, I was even given a BC swag bag on my way out the door. I quickly got scheduled with an oncologist who set up scans, blood draws, the whole gambit. Getting breast cancer at 32 was jarring for the medical providers around me given that I have no family history of breast cancer. Genetic testing was order and I learned that I have an ATM genetic mutation, pre-disposing me to breast cancer and a handful of other cancers. The results were bittersweet as it provided answers to the "why" of cancer early in life, but shifted the initial surgery treatment plan to opting for a double mastectomy. I was generally still in high spirits, and made light of it all, joking about getting a shiny new rack as a silver lining of a shitty situation. When life gives you lemons, make tittyaide, I said. As scan results began to roll in, the plan abruptly shifted. A suspicious spot was found on my sternum and a biopsy confirmed the worst: the cancer had already spread to my sternum, meaning I was now dealing with stage 4 metastatic breast cancer, a completely different beast than when BC is caught early. Surgery got cancelled and starting endocrine therapy ASAP was the new plan to try and shrink the tumors. I had no idea that multiple types of BC exist, all with different treatment implications. My specific type is ER/PR+, HER2-, meaning, my cancer feeds off my hormones. The treatment? Reduce the estrogen in my body as quickly as possible and transition me into menopause, thus stifling the cancer's fuel source. In all this scary news, the thing I mourned the deepest (and still do) is the uphill journey I will face to becoming a mom. Chemo made my spouse sterile and I am unable to carry a pregnancy as I cannot stop treatment long enough to sustain a pregnancy. People mean well when they offer comments like, "you can adopt!" but I'm here to tell you how painful and invalidating that response is. There is lifelong grief associated with infertility for those that want biological children. Even if we are able to pursue foster to adoption (the only "affordable" option to becoming a parent), I will always grieve not getting the experience of being pregnant and having biological kids. As cliché as it is, it's true that you don't always realize how badly you want something until it's no longer an option.

MBC, unlike early onset BC, is considered incurable. It's not an instant death sentence, but any doctor will let you know that it's essentially terminal, meaning it's a slow death. Living with MBC is a very, very different experience as there is no end in sight unlike many other cancer experiences. I will be in treatment for the rest of my life. The statistics for long-term survival aren't great, but I know I'm much more than a statistic. My goal is to live the most fulfilling life I can for as long as I can, and I hope that means I'll be around for a very long time. There's nothing like the threat of dying to make you appreciate each and every day, including the people in your life, the jobs, the pets, nature, etc. I believe maintaining a positive mindset while looking for learning opportunities is so important in overcoming any obstacles in life and I am so incredibly thankful for all those that have shown their love and support. If you read all of my ramblings, thank you for your patience. Take time to appreciate and express gratitude for the good things in your life. No matter how bad the circumstances may be, there is always something to be grateful for. <3

[madame-fear]

I’m crying. I will literally cry. I got assigned a patient with a possible genetic missense mutation (that affects the protein production) and I’m still very new at this

I WILL LITERALLY HAVE TO INTERPRET A GENETIC MUTATION FOR THE FIRST TIME IN MY LIFE AND THE PATIENTS ANALYSIS TOO. PRAY FOR ME

[tremendousnightmaregalaxy]

Watch "ncRNAs - all types of non-coding RNA (lncRNA, tRNA, rRNA, snRNA, snoRNA, siRNA, miRNA, piRNA)" on YouTube

Always changing the narrative, aren't they..

[truths89]

Tech

Nanotechnology embedded in the food Suspicious meat messing with my mood

Orange skies got me feeling blue Earth is an incorporated lab, sad yet true

[arctimon]

Thinking with Portals - A BH6 Character Analysis

You know, I laughed at this when I posted these two together last week, but now I’m been thinking about it a bit too much.

So...a normal day for me.

Everybody knows who the person on the right is.  That’s Celine Simard (aka Sirque), the acrobat thief that showed up for one episode, made a splash, and then never came back ever again sans a mention by Hiro in “Go Go the Woweroo”.

The person on the left?  Well, that’s a little bit more interesting.  I could give you one reason why, but instead...

(Spoiler: I don’t actually have six.)

That would be Rita Wayword, aka Spiral. 

Now, I know that you guys are probably thinking, “Jason, you’re on the sauce again, aren’t you?  These two don’t have anything in common.”

Which I would say “No...because I have to work tomorrow.”

Spiral is a mutant, once known as Ricochet Rita and a professional stuntwoman (similar to Celine’s background as a circus performer).  In a very long, very convoluted backstory that I’m totally not going to go into, she was attacked by her future self, went to the Mojoverse to be with her boyfriend, genetically modified to be Mojo’s bodyguard, and then sent into the past to close the time paradox.

This is why I hate time travel.

Oh yeah, and this is Mojo:

Ain’t nobody got time for that thing, though.  Moving on.

Spiral is a sorceress and was once on the shortlist to be the replacement to Dr. Strange as Sorcerer Supreme.  The magic that she’s most well known for, however...

Is portals.

Hmmm.

So we have a stuntperson/circus acrobat who can make/steal portals into other dimensions with white hair.

Now, let’s add another wrinkle to that.

Spiral at some point would join up with the Sisterhood of Mutants with a bunch of other people (mainly Jean Grey’s clone Madelyne Pryor) in an attempt to steal a lock of Grey’s hair to resurrect her and have her body be Pryor’s body.  Another member of that team?

Lady Deathstrike (on the right).

Hmmmmm.

I would also like to note that both the names Celine and Rita mean “moon” and “pearl” respectively (Celine being an alternate spelling of Selene, Greek for moon and French for “heavenly body” and Rita being a shortening of Margarita, Greek for “pearl”).

Take that into account with Spiral and portals, and...

Hmmmm.

Everything comes back around, doesn’t it?

(Yes, that was a circle joke.  You’ll have to forgive me; it was almost one AM when I was typing this.)

Now, I know what you’re also thinking.  “Jason, aren’t you forgetting the most obvious part? The whole ‘six arms’ thing?”

No, imaginary person, I didn’t.  That’s because I...don’t really have an explanation for that.  The only thing I can say is that they can’t really give her six arms in the show, now can they?  It’d sort of give it away.

“Also, didn’t you have a six-armed person in your fanfics already?  Coat of Arms?”

Yes, I did, and Hiro did learn a lot from fighting her back in The Straight and Arrow.  But that’s not the point.  She’s got a coat.

Boom.  Got ‘em.

But the imagination starts to run wild at some point, and my mind but can’t help but go back to Momakase’s situation with Sycorax and how she was “enhanced” to fight Big Hero 6.  If she can go from this:

To this:

Just imagine if Di Amara was able to get her hands on Sirque.

Is it really that hard to believe that there’s another villain in the Big Hero 6 universe that can go from this:

To this?

*taps head*  See?  Now you’re thinking with portals.