A 1553 GCA>GAA substitution in exon 9 (A385E) and a floxed neo and Prm1-cre cassette were inserted via homologous recombination. Following male germline transmission the floxed cassette was removed. (J:344353)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count