While no mutations could be identified in cDNA sequence, northern blot analysis confirmed reduced expression of Pgap1 protein in adult mutant tissue and E10.5 embryos. mRNA length is normal indicating the mutational event disrupts a regulatory region, attenuating transcription. (J:151594)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count