Exon 7 with a G to A transition at position 14365 resulting in a glycine to arginine amino acid substitution at position 213 (G213R), mimicking a dominant mutation found in autosomal dominant osteopetrosis type 2 (ADO2) patients, was flanked by loxP sites. An frt flanked neo cassette was inserted downstream of exon 7 and was removed by flp mediated recombination. (J:203761)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count