Similar to jg in phenotype and map location. However, a complementation test was not performed because mice carrying jg were not available except by recovery from cryopreservation. A C-to-T point mutation at coding nucleotide 2596 of the cDNA (NM_001042421) results in premature truncation at position 866 of the encoded protein (p.R866*). (J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count