ENU-induced G to T transversion at base pair 102,865,370 (v38) on chromosome 2, or base pair 36,300 in the GenBank genomic region NC_000068 encoding Cd44. The mutation corresponds to residue 475 in the mRNA sequence NM_009851 within exon 2 of 19 total exons. The mutation results in a glutamic acid (E) to aspartic acid (D) substitution at position 52 (E52D) in the CD44 protein. (J:267483)

Basic Information

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