Mice exhibit a point mutation G-to-A at coding nucleotide 1013 in exon 7 that results in the substitution of glycine with aspartic acid at position 338 (p.G338D).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count