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Allele : Gnptab<tm1Kkol> N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Katrin Kollmann

Primary Identifier  MGI:4818381 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gnptab
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 16 was replaced with one in which a C nucleotide was inserted at position 3082 (c.3082insC). This allele corresponds to one identified in mucolipidosis type II (ML II) patients. The absence of mannose-6-phosphate containing proteins was confirmed by western blot analysis.
  • mutations:
  • Insertion
  • synonyms:
  • Gnptab<c.3082insC>,
  • Gnptab<c.3082insC>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

11 Publication categories