This allele comprises a 5 kb insertion in intron 27 in a 5' to 3' orientation downstream of the exons encoding the transmembrane domain. The insertion was identified as an intracisternal A particle (IAP) transposon. Northern analysis shows reduced levels of normal message and Western analysis shows reduced levels of normal protein in homozgous mice. (J:71075)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeJ
Spontaneous
Transposon insertion
Recessive
1
--
3

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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