A CGT to CAT point mutation in exon 19 results in the amino acid substitution of histidine for arginine at position 878 (R878H). Cre-mediated recombination removed the floxed neomycin resistance cassette. (J:237080)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count