Prps1^tm1.1Xzl
Targeted Allele Detail

Summary

• Symbol: Prps1^tm1.1Xzl
• Name: phosphoribosyl pyrophosphate synthetase 1; targeted mutation 1.1, Xue Zhong Liu
• MGI ID: MGI:8375872
• Synonyms: Prps1^KI
• Gene: Prps1 Location: ChrX:139357362-139376889 bp, + strand Genetic Position: ChrX, 61.35 cM, cytoband F1-F2
• Alliance: Prps1^tm1.1Xzl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:388624
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A G to A change at position 259 (c.259G>A) resulting in an alanine to threonine substitution at amino acid 87 (p.Ala87Thr) was introduced in exon 2. A loxP-flanked neomycin resistance cassette was inserted upstream of exon 2 and was removed via cre-mediated recombination. (J:388624)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Prps1 Mutation: 21 strains or lines available

References

• Original: J:388624 Yan D, et al., Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock-In Model for Human DFNX1 Deafness. Clin Genet. 2025 Nov;108(5):566-575
• All: 1 reference(s)