A targeting vector was designed to flank exons 8-10 with loxP sites. Cre mediated recombination resulted in the excision of those exons. Northern blot detected a truncated transcript in mutant brain samples. RT-PCR and sequencing revealed that the correct exons were deleted and that most mutants were lacking exon 7 due to alternative splicing. The deletions created a frameshift mutation beyond exon 6 or 7, resulting in truncated proteins beyond those exons. (J:106803)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Intragenic deletion
--
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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