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Targeted Allele Detail
Symbol: Nsd2tm1Ykan
Name: nuclear receptor binding SET domain protein 2; targeted mutation 1, Yasufumi Kaneda
MGI ID: MGI:3851507
Synonyms: Whsc1-deficient
Gene: Nsd2  Location: Chr5:33820730-33897966 bp, + strand  Genetic Position: Chr5, 17.83 cM
Germline Transmission:  Earliest citation of germline transmission: J:150360
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe locus was inactivated through deletion of its carboxy-terminal region, including the catalytic SET domain, by replacing exons 13-21 with a beta-geo cassette. Homozygous ES cells were obtained by the selection of heterozygous mutant cells in a medium containing a high concentration of G418. Immunoblot analysis of the ES cells confirmed gene inactivation. LacZ was weakly expressed throughout the embryo and highly expressed in neuroepithelium E10.5 (upper), and in the forebrain, midbrain, frontal facial region, jaw, heart, and cartilage primordial at E14.5. (J:150360)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 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 Nsd2 Mutation:  0 strains or lines available
Original:  J:150360 Nimura K, et al., A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. Nature. 2009 Jul 9;460(7252):287-91
All:  4 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 6.13
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