Exon 5 was modified (A to C) to encode the amino acid substitution of alanine for aspartic acid at position 124 (D124A). A loxP site is present downstream of exon 7. No selection cassette is present in the allele. (J:222035)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count