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Arhgap35tm1Jset
Targeted Allele Detail
Nomenclature
Symbol: Arhgap35tm1Jset
Name: Rho GTPase activating protein 35; targeted mutation 1, Jeffrey Settleman
MGI ID: MGI:2448591
Synonyms: Arhgap35-, p190-, p190rhogap-, p190 RhoGAP-, RhoGAP-
Gene: Arhgap35  Location: Chr7:16494473-16615244 bp, - strand  Genetic Position: Chr7, 9.15 cM
Hypoplastic and glomerulocystic kidneys in Arhgap35tm1Jset/Arhgap35tm1Jset mutants

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:65296
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details1.5 kb of sequence, including the start codon and encoding the GTPase domain, was replaced by a PGK-neo cassette. While normal protein was undetected by Western blot analysis of homozygous mutant embryo brain lysates, an aberrant protein generated from an internal start codon was identified at a level similar to that of the wild-type protein. Though sequence encoding the RasGAP binding and RhoGAP domains was retained by the mutant allele, the mutant protein failed to undergo tyrosine phosphorylation or RasGAP association in the brain. Analysis of heterozygous mice indicated improper localization of the mutant protein. Whereas 34% of the wild-type protein was isolated in a detergent-insoluble fraction of brain lysate, only 7% of the mutant protein was present in the same fraction. In addition, study of MEFs indicated differential subcellular localization. (J:65296)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 11 assay results
In Structures Affected by this Mutation: 27 anatomical structures
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 Arhgap35 Mutation:  31 strains or lines available
References
Original:  J:65296 Brouns MR, et al., The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development. Development. 2000 Nov;127(22):4891-903
All:  7 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
09/10/2019
MGI 6.14
The Jackson Laboratory