A point mutation changing a C to G at position 731 in exon 7 (P244R) and a floxed neo cassette in intron 7 were introduced by homologous recombination. (J:144356)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count