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Itsn1tm2.1Mapr
Targeted Allele Detail
Summary
Symbol: Itsn1tm2.1Mapr
Name: intersectin 1 (SH3 domain protein 1A); targeted mutation 2.1, Melanie A Pritchard
MGI ID: MGI:3812035
Synonyms: Itsn1-LK-
Gene: Itsn1  Location: Chr16:91526198-91717479 bp, + strand  Genetic Position: Chr16, 53.28 cM, cytoband C4
Alliance: Itsn1tm2.1Mapr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:140030
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neo cassette with a 5' loxP site was inserted upstream of exon 32 and an additional loxP site was inserted downstream of exon 32. Transient cre expression in ES cells was used to removed the neo cassette and exon 32 causing a frame shift and premature termination of translation. The absence of the long form of the protein was confirmed by western blot analysis on brain and heart extracts. (J:140030)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Itsn1 Mutation:  101 strains or lines available
References
Original:  J:140030 Yu Y, et al., Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities. Hum Mol Genet. 2008 Nov 1;17(21):3281-90
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory