Target

Gene symbol :  
Ehmt1
NCBI gene ID :  
77683
Gene full name :  
Euchromatic histone methyltransferase 1
Synonym :  
KMT1D, mKIAA1876

Protein function

Protein name :  
Histone‑lysine N‑methyltransferase EHMT1
Catalyzes H3K9 methylation; regulates chromatin silencing and gene expression

Expected phenotype

Haploinsufficiency causes developmental defects and altered gene expression

Human disease relevance

Mutations cause Kleefstra syndrome (intellectual disability, congenital anomalies)

Model applications

Model for epigenetic regulation and developmental syndromes

Keywords:

H3K9 methylation, Epigenetics, Chromatin, Kleefstra syndrome

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Ehmt1

conditional Knockout mouse

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