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Exons 2 and 3 were replaced with a neomycin selection cassette. The deleted region encoded amino acids 19 through 64. The absence of transcript and protein was determined by RNAse protection and Western blot analyses of homozygous mutant brains and testes. Methyltransferase activity assays showed activity to be ablated in lysates of brain, testis, and eye tissue and reduced in renal lysates. Other enzymes were believed to be responsible for the activity observed in the kidney. (J:46228)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
