Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Hprt1tm1Detl
Name:	hypoxanthine phosphoribosyltransferase 1; targeted mutation 1, Peter J Detloff
MGI ID:	MGI:1861939
Synonyms:	hprt(CAG)146, JO1
Gene:	Hprt1  Location: ChrX:52077014-52110536 bp, + strand  Genetic Position: ChrX, 29.31 cM, cytoband A6
Alliance:	Hprt1tm1Detl page

Germline Transmission:	Earliest citation of germline transmission: J:44728
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Inserted expressed sequence) Mutation:    Insertion   Mutation details: A construct was created that introduced a long CAG repeat (n=146 units) into an Xho1 site in exon 3 of a genomic fragment of the locus. An additional 4.9kb genomic fragment, which included exon 4 of the gene, was added to this repeat-containing construct. Appropriately targeted clones had sequences containing the 146-unit CAG repeat, encoding a stretch of 146 glutamines, in place of wild-type exon 3. (J:44728)

View phenotypes and curated references for all genotypes (concatenated display).

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 Hprt1 Mutation:	1273 strains or lines available

Original:	J:44728 Ordway JM, et al., Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell. 1997 Dec 12;91(6):753-63
All:	4 reference(s)