The mutation is a 5.4kb intracisternal A particle (IAP) element insertion upstream of the promoter. This is a hypomorphic allele; Northern blot analysis and RT-PCR results show that expression is at much lower levels in homozygous than in wild-type mice. (J:38209)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count