The mutation in the blebbed mouse was identified as nucleotide changes within the 47th exon. This nonsense mutation 7313CC to AA (S2200X) was not identified in 9 other strains of mice. (J:83745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count