Slc34a1^tm1Hten
Targeted Allele Detail

Summary

• Symbol: Slc34a1^tm1Hten
• Name: solute carrier family 34 (sodium phosphate), member 1; targeted mutation 1, Harriet S Tenenhouse
• MGI ID: MGI:2386786
• Synonyms: NaPi2a-, Npt2-, Npt2a KO
• Gene: Slc34a1 Location: Chr13:55547435-55562508 bp, + strand Genetic Position: Chr13, 29.81 cM, cytoband B
• Alliance: Slc34a1^tm1Hten page

Histological appearance of bone from wild-type, Slc34a1^tm1Hten/Slc34a1⁺ and Slc34a1^tm1Hten/Slc34a1^tm1Hten mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47637
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 6 through 10 were replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded amino acids 178 through 389. Northern blot and RT-PCR analyses showed reduced levels of transcript in heterozygous mice and and an absence of transcript in homozygous mutant mice. While protein was undetected in homozygous mutant mice by Western blot analysis of renal tissue, normal levels of protein were detected in heterozygotes. (J:47637)

Disease models

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	7 anatomical structures

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 Slc34a1 Mutation: 32 strains or lines available

References

• Original: J:47637 Beck L, et al., Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5372-7
• All: 30 reference(s)