Insertion of a PGK-neomycin resistance cassette deleted 119 bp of exon III downstream of the initiation codon, intron 3, and 68 bp of exon IV, and inserted a stop codon immediately downstream of the aa 13 codon. The deleted sequences encode amino acids 14-73. Western and Northern blot analyses did not detect expression in any tissues from homozygous mutant mice. (J:66262)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count