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Targeted Allele Detail
Symbol: Ext1tm1Yama
Name: exostoses (multiple) 1; targeted mutation 1, Yu Yamaguchi
MGI ID: MGI:2682061
Synonyms: Ext1f, Ext1flox
Gene: Ext1  Location: Chr15:53064038-53346159 bp, - strand  Genetic Position: Chr15, 20.0 cM
Craniofacial malformation in Ext1tm1Yama/Ext1tm1YamaH2afvTg(Wnt1-cre)11Rth/0 mice

Show the 5 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:86465
Parent Cell Line:  Lex-1 (ES Cell)
Strain of Origin:  129S5/SvEvBrd
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
Mutation detailsThe coding region of exon 1 was flanked by single loxP sites in the 5' untranslated region of exon 1 and in intron 1. The targeting vector contained a frt-flanked neomycin cassette in intron 1, though this selection cassette was removed via in vivo FLP-mediated recombination. (J:86465)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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 Ext1 Mutation:  43 strains or lines available
Phenotypic Similarity to Human Syndrome: Peters Anomaly in homozygous mice carrying Tg(Wnt1-cre)11Rth (J:152572)
Original:  J:86465 Inatani M, et al., Mammalian brain morphogenesis and midline axon guidance require heparan sulfate. Science. 2003 Nov 7;302(5647):1044-6
All:  26 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory