Avpr2^tm1Jwe
Targeted Allele Detail

Summary

• Symbol: Avpr2^tm1Jwe
• Name: arginine vasopressin receptor 2; targeted mutation 1, Jurgen Wess
• MGI ID: MGI:2150344
• Synonyms: Avpr2^E242X, V2R-
• Gene: Avpr2 Location: ChrX:72935371-72938034 bp, + strand Genetic Position: ChrX, 37.46 cM
• Alliance: Avpr2^tm1Jwe page

Pelvic space of Avpr2^tm1Jwe/Y pups is enlarged in kidneys

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66094
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A neomycin resistance cassette was inserted into the second intron of the gene, splitting codon 304. This cassette was flanked by two loxp 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; E242X) 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Avpr2 Mutation: 1 strain or line available

References

• 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
• All: 2 reference(s)