A neo cassette replaced exons 14-17. Transcripts were expected to utilize the neo polyA, thereby lacking codons 703-1237, which encode the transmembrane domains. Northern blot using probes of sequences 3' to the neo showed that wild-type mRNAs were ablated in mutants, whereas probes of sequences 5' to the neo indicated presence of transcripts consistent in size with two splice variants. An immunofluorescence assay using an antibody that recognizes the C terminus confirmed protein disruption. (J:91617)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
1
10

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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