A four bp insertion that disrupts the consensus 5' splice site of intron A/B was identified. Reduced levels of transcripts are produced from this allele and are present at approximately 20% of the normal levels in homozygous mice. (J:38214)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count