A missense mutation was introduced to replace proline at position 465 in exon 6 with leucine (P465L). An ACN cassette containing a testis-specific Ace promoter, Cre recombinase and Neo-resistance gene was excised upon germline transmission. Southern blot confirmed recombination. (J:91362)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count