Scnn1b^tm1Ipt
Targeted Allele Detail

Summary

• Symbol: Scnn1b^tm1Ipt
• Name: sodium channel, nonvoltage-gated 1 beta; targeted mutation 1, Edith Hummler
• MGI ID: MGI:2179831
• Synonyms: betaENaC m/m
• Gene: Scnn1b Location: Chr7:121464261-121517737 bp, + strand Genetic Position: Chr7, 65.07 cM
• Alliance: Scnn1b^tm1Ipt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:53057
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: A stop codon followed by a loxP-flanked neomycin resistance cassette was inserted at a position corresponding to residue arg566 in the human gene. Northern blot analysis on colon, kidney and lung RNA revealed that a low level (1-4%) of a truncated transcript was expressed from this allele. (J:53057)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Scnn1b Mutation: 47 strains or lines available

References

• Original: J:53057 Pradervand S, et al., Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1732-7
• All: 10 reference(s)