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Allele : Glb1<em2Lutzy> galactosidase, beta 1; endonuclease-mediated mutation 2, Cathy Lutz

Primary Identifier  MGI:6285745 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Glb1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 endonuclease mediated genome editing is used to introduce the the Y155Y and L156R point mutations. Murine L156R is a missense mutation corresponding to the clinical L155R mutation associated with GM1-gangliosidosis and Mucopolysaccharidosis type IVB (Morquio).
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Glb1 Y155Y L156R,
  • Glb1 Y155Y L156R
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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

2 Publication categories

Trail: Allele