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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count