Exon 2 was disrupted by the insertion of a neomycin selection cassette. Aberrant transcripts were detected by Northern blot and RT-PCR analyses of mutant mice. The use of various cDNA fragments and sequence analysis indicated that the mutant transcripts lacked portions of exon 2 and contained neomycin sequence. Southern blot analysis confirmed that the aberrant splicing was not a result of incorrect recombination. No protein was detected by immunostaining of sperm obtained from homozygous mutant mice. (J:38658)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count