A loxP flanked Neo cassette was inserted into intron 10 and a single nucleotide substitution that resulted in an amino acid substitution of Glycine 385 to Arginine (G385R) was inserted into exon 8 by homologous recombination. (J:156750)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count