Umod^tm1.1Rvt
Targeted Allele Detail

Summary

• Symbol: Umod^tm1.1Rvt
• Name: uromodulin; targeted mutation 1.1, Rajesh V Thakker
• MGI ID: MGI:6116661
• Synonyms: Umod^125R
• Gene: Umod Location: Chr7:119061931-119078485 bp, - strand Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
• Alliance: Umod^tm1.1Rvt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:242593
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Homologous recombination introduced the C125R mutation in exon 3 and a loxP flanked neomycin resistance cassette in intron 2. The floxed neomycin cassette was removed via Cre-mediated recombination. The C125R mutation alters the third cysteine residue of the calcium-binding epidermal growth factor-like domain 3. (J:242593)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Umod Mutation: 5 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: autosomal dominant tubulointerstitial kidney disease J:242593.

References

• Original: J:242593 Piret SE, et al., A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. Dis Model Mech. 2017 Jun 01;10(6):773-786
• All: 3 reference(s)