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Sox3tm1Pqt
Targeted Allele Detail
Summary
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
Mutation
origin
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+
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Sox3 Mutation:  7 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory