Aqp2^tm1Ask
Targeted Allele Detail

Summary

• Symbol: Aqp2^tm1Ask
• Name: aquaporin 2; targeted mutation 1, A S Verkman
• MGI ID: MGI:3511443
• Gene: Aqp2 Location: Chr15:99476937-99482426 bp, + strand Genetic Position: Chr15, 56.13 cM
• Alliance: Aqp2^tm1Ask page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94003
• Parent Cell Line: CB1-4 (ES Cell)
• Strain of Origin: C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: T126M, H122S, N124S and A125T mutations were introduced into exon 2 by homologous recombination. A Pol2neobpA cassette flanked by loxP sites was inserted into intron 2. Northern blot showed 3.5-fold marked-up regulation of the transcript in mutants. (J:94003)

Expression

In Structures Affected by this Mutation:

5 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 Aqp2 Mutation: 17 strains or lines available

References

• Original: J:94003 Yang B, et al., Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus. J Biol Chem. 2001 Jan 26;276(4):2775-9
• All: 2 reference(s)