Ext1-Flox

Nomenclature

C57BL/6Smoc-Ext1em1(flox)Smoc

Cat. NO.

NM-CKO-241959

Strain State

Developing

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Gene Summary

Gene Symbol
Ext1

Synonyms

AA409028

NCBI ID

14042

MGI ID

894663

Ensembl ID

ENSMUSG00000061731

Pubmed

Ext1

Human Ortholog

EXT1

Model Description

These strains carry loxP sites flanking exon 1 of Ext1 gene. When crossed with a Cre recombinase-expressing strain, this strain is useful in eliminating tissue-specific conditional expression of Ext1 gene.

Disease Connection

Hereditary Multiple Exostoses

Phenotype(s)

MGI:4437605
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Col2a1-rtTA,tetO-cre mice.

Reference(s)

Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC, A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9

hereditary multiple exostoses

Phenotype(s)

MGI:4818630
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Col2a1-cre/ERT mice.

Reference(s)

Matsumoto K, Irie F, Mackem S, Yamaguchi Y, A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7

hereditary multiple exostoses

Phenotype(s)

MGI:6101207
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Col2a1-cre/ERT mice.

Reference(s)

Sinha S, Mundy C, Bechtold T, Sgariglia F, Ibrahim MM, Billings PC, Carroll K, Koyama E, Jones KB, Pacifici M, Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. PLoS Genet. 2017 Apr;13(4):e1006742

Autism Spectrum Disorder

Phenotype(s)

MGI:5316488
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Camk2a-cre mice.

Reference(s)

Irie F, Badie-Mahdavi H, Yamaguchi Y, Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):5052-6

Hereditary Multiple Exostoses

Phenotype(s)

MGI:6101205
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Acan-Cre mice.

Reference(s)

Sinha S, Mundy C, Bechtold T, Sgariglia F, Ibrahim MM, Billings PC, Carroll K, Koyama E, Jones KB, Pacifici M, Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. PLoS Genet. 2017 Apr;13(4):e1006742

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