Exon 4 was deleted via cre mediated recombination. RT-PCR analysis failed to detect mRNA from mutant brain samples. Deletion of exon 4 would cause a frame shift and create a premature stop codon in exon 5 when splicing occurs between exons 3 and 5. (J:101332)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count