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Allele : Gne<tm1Smro> glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; targeted mutation 1, Stella Mitrani-Rosenbaum

Primary Identifier  MGI:6446963 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gne
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  Methionine codon 743 (ATG) in exon 12 was changed to threonine (ACG) (p.M743T) and a loxP site flanked neomycin resistance gene cassette was inserted downstream of 12. The mutation is the equivalent of the same human mutation associated with hereditary inclusion body myopathy (HIBM) (OMIM:600737).
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Gne<M743T>,
  • Gne<M743T>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories