Nsd2^tm1Ykan
Targeted Allele Detail

Summary

• Symbol: Nsd2^tm1Ykan
• Name: nuclear receptor binding SET domain protein 2; targeted mutation 1, Yasufumi Kaneda
• MGI ID: MGI:3851507
• Synonyms: Whsc1-deficient
• Gene: Nsd2 Location: Chr5:33978069-34055319 bp, + strand Genetic Position: Chr5, 17.83 cM
• Alliance: Nsd2^tm1Ykan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:150360
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 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)

Disease models

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 Nsd2 Mutation: 50 strains or lines available

References

• 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)