Posts Tagged ‘i0cmp19’

Meeting Materials for Perspectives in Comparative Genomics & Evolution – August 15-16, 2019

Monday, August 19th, 2019


* MATERIAL in labdropbox


Liked-tweets-from-i0cmp19.pdf + Liked-Tweets-from-i0cmp19.xlsx i0cmp19-slides

* MATERIAL in labdropbox3

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

Monday, August 19th, 2019

b2b1035Clo = Blue meanie mutation

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.

Parental influence on human germline de novo mutations in 1,548 trios from Iceland. – PubMed – NCBI

Monday, August 19th, 2019