The mutation is a 1.6-kb deletion of the entire genomic region of the gene. Resulting homozygous mice showed complete absence of the encoded protein in tissues such as thymus, lung, and brain where it is normally highly expressed. (J:236776)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count