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

Symbol:	Sox3tm1Pqt
Name:	SRY (sex determining region Y)-box 3; targeted mutation 1, Paul Q Thomas
MGI ID:	MGI:5504449
Synonyms:	Sox3-26ala, Sox3tm1Ptho
Gene:	Sox3  Location: ChrX:59934972-59937036 bp, - strand  Genetic Position: ChrX, 33.66 cM, cytoband A7.3-B
Alliance:	Sox3tm1Pqt page

Mouse Generated:	Earliest citation of chimera generation: J:195300
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted Mutation:    Insertion   Mutation details: A 36 bp expansion of the first polyalanine tract expanded the tract from 14 to 26 alanines. Morula injection resulted in chimeras with up to 95% mutant cell contribution. In addition, an FRT flanked neo selection cassette was inserted downstream. Despite extensive breeding, none of these chimeras exhibited germline transmission of the mutant allele. (J:195300)

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

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Sox3 Mutation:	7 strains or lines available

Original:	J:195300 Hughes J, et al., Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism. PLoS Genet. 2013 Mar;9(3):e1003290
All:	1 reference(s)