A 5.5 kb early retrotransposon element insertion flanked by a 6-bp direct repeat is found in intron 22. This results in skipping of exon 22 or exons 21 and 22 and the production of a truncated transcript. Full length wild-type transcripts are not detected in brains of homozygous mice. (J:211342)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CD1 and NOR
Spontaneous
Transposon insertion
Recessive
1
1
5

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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