The targeting construct inserted a second coding region with a modified exon 1 containing the mutation (CCG to CAT) encoding the amino acid substitution proline with histidine at position 95 (P95H). The endogenous coding region was flanked with loxP and FRT sites. Cre-mediated recombination removed the coding region. (J:266284)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count