Aqp11^sjds
Chemically induced Allele Detail

Summary

• Symbol: Aqp11^sjds
• Name: aquaporin 11; sudden juvenile death syndrome
• MGI ID: MGI:1889609
• Synonyms: 5772SB
• Gene: Aqp11 Location: Chr7:97375586-97387454 bp, - strand Genetic Position: Chr7, 53.57 cM
• Alliance: Aqp11^sjds page

Mutation origin

• Strain of Origin: BALB/cRl

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion at codon 718 in exon 2. This mutation results in the amino acid substitution of serine for cysteine at position 227 (C227S). The reduction in transcript expression was confirmed by RT-PCR and in situ hybridization analysis. (J:169660)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

7 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 Aqp11 Mutation: 16 strains or lines available

References

• Original: J:54592 Rinchik EM, et al., N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Genetics. 1999 May;152(1):373-83
• All: 3 reference(s)