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Ext1tm1Yama
Targeted Allele Detail
Nomenclature
Symbol: Ext1tm1Yama
Name: exostosin glycosyltransferase 1; targeted mutation 1, Yu Yamaguchi
MGI ID: MGI:2682061
Synonyms: Ext1f, Ext1flox
Gene: Ext1  Location: Chr15:53068261-53346183 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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86465
Parent Cell Line:  Lex-1 (ES Cell)
Strain of Origin:  129S5/SvEvBrd
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 26 anatomical structures
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:  13 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Peters Anomaly in homozygous mice carrying Tg(Wnt1-cre)11Rth (J:152572)
References
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:  27 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
09/10/2019
MGI 6.14
The Jackson Laboratory