Posts Tagged ‘keyabbrev’

Cc2d2a Chemically induced Allele Detail MGI Mouse (MGI:5311382)

Monday, August 19th, 2019

http://www.informatics.jax.org/allele/MGI:5311382

b2b1035Clo = Blue meanie mutation

QT:{{”
Cc2d2ab2 ^ b1035Clo
Name:coiled-coil and C2 domain containing 2A; Bench to Bassinet Program (B2B/CVDC), mutation 1035 Cecilia Lo
MGI ID:MGI:5311382
Synonyms:Blue meanie
Gene:Cc2d2a Location: Chr5:43662373-43740975 bp, + strand Genetic Position: Chr5, 23.78 cM
Heterotaxy indicated by left lung isomerism with left sided IVC and TGA (observed by EFIC imaging)


Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 2845 in exon 23 of the cDNA (c.2845C>T, NM_172274). This changes the arginine residue to a translation stop at position 949 of the encoded protein (p.R949*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cc2d2ab2b1035Clo, and may be present in stocks carrying this mutation.
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SHANK3 | Spectrum | Autism Research News

Saturday, July 20th, 2019

https://www.spectrumnews.org/wiki/shank3/

From Zhu et al. Science (’18)
QT:{{”
Further analysis revealed that the ASD-associated genes SHANK2 and SHANK3, which encode synaptic scaffolding proteins at the postsynaptic density of excitatory glutamatergic synapses, exhibited earlier expression in the macaque NCX and other brain regions relative to humans (Fig. 7B).
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time – Why is a second equal to the duration of exactly 9,192,631,770 periods of radiations? – Physics Stack Exchange

Sunday, May 26th, 2019

https://physics.stackexchange.com/questions/243144/why-is-a-second-equal-to-the-duration-of-exactly-9-192-631-770-periods-of-radiat/243162

9192631770

Ideal gas law – Wikipedia – PV=nRT

Sunday, April 14th, 2019

https://en.wikipedia.org/wiki/Ideal_gas_law

ROBO4 Gene – GeneCards | ROBO4 Protein | ROBO4 Antibody

Sunday, April 7th, 2019

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ROBO4

The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia – Costas – 2018 – American Journal of Medical Genetics Part B: Neuropsychiatric Genetics – Wiley Online Library

Sunday, April 7th, 2019

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.32545

assoc w. SCZ+Chron’s
protective to Parkinson’s

LDLR gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/LDLR
LDLR – 4X risk for heart attack (currently most) + 5X incr risk for LOF variants

DRD2 gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/DRD2

assoc w/ scz
dopamine receptor

DRD2 gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/DRD2

assoc w/ scz
dopamine receptor

LDLR gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/LDLR
LDLR – 4X risk for heart attack (currently most) + 5X incr risk for LOF variants