Arhgap35tm1Jset
Targeted Allele Detail
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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: Chr7:16228398-16349313 bp, - strand Genetic Position: Chr7, 9.15 cM
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Alliance: |
Arhgap35tm1Jset page
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Hypoplastic and glomerulocystic kidneys in Arhgap35tm1Jset/Arhgap35tm1Jset mutants
Show the 3 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:65296
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Parent Cell Line: |
D3 (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: 1.5 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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: |
9 reference(s) |
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