Exon 10 was replaced with a modified exon 10 in which a nucleotide substitution (G to C) results in the amino acid substitution of lysine for valine at position 572 (V572L). Cre-mediated recombination removed the floxed neo cassette downstream of the modified exon 10. (J:184315)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count