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Allele : Musk<tm2Vwi> muscle, skeletal, receptor tyrosine kinase; targeted mutation 2, Veit Witzemann

Primary Identifier  MGI:3815474 Allele Type  Targeted
Attribute String  Conditional ready, No functional change Gene  Musk
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  The exon encoding the SDV-XI tyrosine kinase domain was replaced with one in which a G->A transition at position 2365 (c.2365G>A) results in the amino acid substitution of methionine for valine at position 789 (V789M). This mutation is homologous to the V790M mutation identified in human patients with congenital myasthenic syndrome. The modified exon along with an upstream neo cassette are flanked by loxP sites.
  • mutations:
  • Insertion
  • synonyms:
  • musk<V789M>,
  • musk<V789M>
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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

5 Publication categories