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Identified in an ENU screen and mapped to Chromosome 3 0-76 (4 Mb). Genotyping of affected mice (n=51) indicated complete concordance between homozygosity for a chr3:g.33731448A>T variant and the hydrocephalus phenotype. Mutants expressed two atypical transcripts but no wild-type transcript, a result of a failure in splicing intron 7 and cryptic alternative splicing in exon 7. Immunoblotting of wild-type and mutant brain lysates indicated no protein is expressed from this allele in the mutant mice. (J:174027, J:253968)
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
