This variant is found in many inbred strains including C57BL/6J, C58/J, AKR/J, SJL/J, SWR. Sequence analysis shows that relative to the a variant of C3H/HeJ the b variant has point mutations that result in isoleucine instead of valine at amino acid 9, glutamine instead of leucine at amino acid 52, and phenylalanine instead of isoleucine at amino acid 71, all within the amino terminal scavenger receptor cysteine-rich D1 domain, in addition to 7 silent point mutations. (J:8546, J:40410)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
multiple strains
Spontaneous
Undefined
--
1
--
7

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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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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