ENU-induced T to A transversion at base pair 195,155,888 (v38) on chromosome 1, or base pair 21,303 in the GenBank genomic region NC_000067 encoding Cr2. The mutation corresponds to residue 2,244 in the mRNA sequence NM_007758 within exon 12 of 19 total exons. The mutation results in substitution of cysteine 713 to a premature stop codon (C713*) in the CR2 protein. (J:267527)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
5
--

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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