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| Nomenclature |
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Symbol:
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Avpr2tm1Jwe
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Name:
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arginine vasopressin receptor 2;
targeted mutation 1, Jurgen Wess
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MGI ID: |
MGI:2150344 |
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Synonyms: |
Avpr2E242X, V2R- |
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Gene:
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Avpr2
Location:
ChrX:73892102-73895502 bp, + strand
Genetic Position: ChrX,
37.46 cM
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Pelvic space of Avpr2tm1Jwe/Y pups is enlarged in kidneys
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:66094
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A neomycin resistance cassette was inserted into the second intron of the gene, splitting codon 304. This cassette was flanked by two lox p sequences, which enabled the removal of the neo cassette from the mouse genome when desired. In addition, a Glu 242 stop nonsense mutation (GAA to TAG) was introduced by PCR-based site-directed mutagenesis, resulting in an Avpr2 protein that is truncated within the third intracellular loop and is functionally inactive. (J:66094)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Avpr2 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:66094
Yun J et al.,
"Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene"
J Clin Invest 2000 Dec;106(11):1361-71
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All: |
2 reference(s)
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Analysis Tools
