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Allele : Gnptab<tm1Ddray> N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Dennis Drayna

Primary Identifier  MGI:7593593 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gnptab
Transmission  Germline Strain of Origin  BALB/cJ
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting vector was designed to replace exon 19 with one specifying a change of glutamic acid to lysine at amino acid position 1179 (c.3535G>A (GAA-AAA)) , which is homologous to a human Glu1200Lys mutation correlated with stuttering. The targeting vector also contained an internal ribosome entry site (IRES) to allow initiation of translation of an inserted beta-galactoside gene (beta-gal) for subsequent gene expression studies in tissues, as well as a neomycin resistance cassette (PGK-Neo-pA) for selection of the transfected ES cells.
  • mutations:
  • Nucleotide substitutions
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele