This mutation was identified by IgM+ B-cell proliferation and flow cytometry screening of progeny of an ENU treated mouse. The mutation is an A to T substitution at nucleotide position 925 of the cDNA sequence (NCBI m37, Ensembl build 62), in a region corresponding to exon 5 of the gene. It results in replacement of aspartic acid by valine at amino acid position 215 of the protein. (J:104190)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JSfdAnu
Chemically induced
Single point
Recessive
1
2
--

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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