Exon 10 was replaced with a floxed neo cassette and a modified exon 10 in which a C to T transition results in the amino acid substitution of leucine for proline at position 301 (P301L). Cre-mediated recombination removed the neo cassette. (J:188213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count