Hprt1^{tm2(Hsp-PLP1*L30R)Apt}
Targeted Allele Detail

Summary

• Symbol: Hprt1^{tm2(Hsp-PLP1*L30R)Apt}
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 2, Alan Peterson
• MGI ID: MGI:7496019
• Synonyms: hPLPW, W
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^{tm2(Hsp-PLP1*L30R)Apt} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:238644
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Inserted expressed sequence)
• Mutation: Insertion
• Hprt1^{tm2(Hsp-PLP1*L30R)Apt} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  PLP1 (5354)

  Plp1	(MGI:97623)

  Expresses a mutated human PLP1 cDNA

• Mutation details: A construct consisting of a wmN1 enhancer, a heat shock protein (Hsp) promoter, the human PLP1 cDNA modified c.89T-G (resulting in p.Leu30Arg) and a polyadenylation (PolyA) signal, plus an Hprt1 promoter and exon 1 was inserted at the 5' end of Hprt1 in reverse orientation in ES cells that carried a deletion of the Hprt1 promoter and exon 1. The recombined locus contains a restored Hprt1 gene and the expression construct in tandem reverse orientation to the Hprt1 gene. (J:238644)

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 Hprt1 Mutation: 1280 strains or lines available

Notes

B6/S-1 ES cells were used.

References

• Original: J:238644 Groh J, et al., Pathogenic inflammation in the CNS of mice carrying human PLP1 mutations. Hum Mol Genet. 2016 Nov 1;25(21):4686-4702
• All: 2 reference(s)