Aqp2^tm1(AQP2)Suc
Targeted Allele Detail

Summary

• Symbol: Aqp2^tm1(AQP2)Suc
• Name: aquaporin 2; targeted mutation 1, Shinichi Uchida
• MGI ID: MGI:3687866
• Synonyms: AQP2(763-772 del)
• Gene: Aqp2 Location: Chr15:99476937-99482426 bp, + strand Genetic Position: Chr15, 56.13 cM
• Alliance: Aqp2^tm1(AQP2)Suc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:113716
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Aqp2^tm1(AQP2)Suc expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  AQP2 (359)

  Aqp2	(MGI:1096865)

• Mutation details: The C terminus was exchanged for that of the human AQP2 with a deletion of bp 763-772. A floxed lacZ-neo was included in the vector and subsequently removed via cre-mediated recombination. Western blot detected expression of a chimeric protein in mutant mice. (J:113716)

Disease models

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 Aqp2 Mutation: 16 strains or lines available

References

• Original: J:113716 Sohara E, et al., Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14217-22
• All: 1 reference(s)