Slc4a1^tm1.1Cahb
Targeted Allele Detail

Summary

• Symbol: Slc4a1^tm1.1Cahb
• Name: solute carrier family 4 (anion exchanger), member 1; targeted mutation 1.1, Christian Hubner
• MGI ID: MGI:8437065
• Synonyms: Ae1^R607H
• Gene: Slc4a1 Location: Chr11:102239646-102256107 bp, - strand Genetic Position: Chr11, 66.29 cM, cytoband D
• Alliance: Slc4a1^tm1.1Cahb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:291263
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details:

  Arginine codon 607 (CGA) in exon 14 was changed to histidine (CAT) (p.R607H) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 9. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation, in transmembrane domain 6 of the encoded protein, is the equivalent of the human p.R589H mutation associated with distal renal tubular acidosis (dRTA) and in hetero- and homozygous mice leads to a similar phenotype. (J:291263)

• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

2 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 Slc4a1 Mutation: 55 strains or lines available

References

• Original: J:291263 Mumtaz R, et al., Intercalated Cell Depletion and Vacuolar H(+)-ATPase Mistargeting in an Ae1 R607H Knockin Model. J Am Soc Nephrol. 2017 May;28(5):1507-1520
• All: 1 reference(s)