The mutation, in exon 19 of the gene, comprises a T to A transversion at nucleotide position 3109 of the cDNA sequence (ENSMUST00000024983) that results in replacement of isoleucine by lysine at amino acid position 855 of the protein (I855K). Western blot of E11.5 embryos indicates a reduction of protein to about 85% of wild-type levels in heterozygotes and about 30% of wild-type levels in homozygotes. RT-PCR indicates an approximate 30% decrease in homozygotes compared to wild-type mice. (J:199856, J:220659)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JAnu
Chemically induced
Single point
Not Specified
1
15
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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