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This allele represents the "mutated" (less frequently found) GA version of co-segregating SNPs rs108080490 (T/G) and rs107649577 (C/A), as found in the 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, BTBR/J, CASA, CAST/EiJ, CZECH, FL, JF1, LP/J, MOLF, MOLG, MSM, NZW, PWD, PWK/PhJ, SF, SJL/J, SKIVE, and SPRET/EiJ strains. The TC>GA substitution causes codon 148 to change from serine to glutamic acid (p.S148E). The "wild-type" TC genotype is found in the A/J, AKR/J, BALB/cJ, C3H/HeJ, C57BL/6NJ, CBA/J, DBA/2J, FVB/NJ, NOD/ShiLtJ, NZO/HILtJ, and WSB/EiJ strains. (J:101977)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
