Scnn1b^tm1.1Ipt
Targeted Allele Detail

Summary

• Symbol: Scnn1b^tm1.1Ipt
• Name: sodium channel, nonvoltage-gated 1 beta; targeted mutation 1.1, Edith Hummler
• MGI ID: MGI:2448620
• Synonyms: beta566Stop, Liddle
• Gene: Scnn1b Location: Chr7:121464261-121517737 bp, + strand Genetic Position: Chr7, 65.07 cM
• Alliance: Scnn1b^tm1.1Ipt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:59840
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The mouse model of Liddle's syndrome was created by deleting the loxP-flanked neomycin resistance cassette following the engineered stop codon at position 566. This was achieved by mating Scnn1b^tm1Ipt animals to cre-expressing line TgN(EIIa-cre)C5379Lmgd. Northern blot analysis of colon and kidney mRNA showed a significant decrease in gene expression in mutant animals. (J:59840)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:59840 Pradervand S, et al., A mouse model for Liddle's syndrome. J Am Soc Nephrol. 1999 Dec;10(12):2527-33
• All: 11 reference(s)