The mutation is a 5.4kb intracisternal A particle (IAP) element insertion upstream of the promoter. This is a hypomorphic allele; Northern blot analysis and RT-PCR results show that expression is at much lower levels in homozygous than in wild-type mice. (J:38209)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/Rl
Spontaneous
Transposon insertion
Recessive
1
14
1

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

References Literature

Title
PMID
Journal
Year
IF
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