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)
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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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