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Allele : Alpk1<em1Dlka> alpha-kinase 1; endonuclease-mediated mutation 1, Daniel L Kastner

Primary Identifier  MGI:7614851 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Alpk1
Strain of Origin  C57BL/6N Is Recombinase  false
Is Wild Type  false
molecularNote  Threonine codon 237 (ACA) in exon 9 was changed to methionine (ATG) (p.T237M) using an sgRNA (targeting ACAGGGCATTTCCACATCAC) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Alpk1<T237M>,
  • Alpk1<T237M>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele