This allele is an cre/loxP-induced intragenic deletion of the splice site, coding region, and the 3'UTR of exon 6. Immunostaining revealed substantial levels in cortex, hippocampus, thalamus, hypothalamus, and cerebellum with virtually total loss of the enzyme in homozygous mutant mice. (J:225876)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count