Glb1^em2Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Glb1^em2Lutzy
• Name: galactosidase, beta 1; endonuclease-mediated mutation 2, Cathy Lutz
• MGI ID: MGI:6285745
• Synonyms: Glb1 Y155Y L156R
• Gene: Glb1 Location: Chr9:114230146-114303447 bp, + strand Genetic Position: Chr9, 64.4 cM
• Alliance: Glb1^em2Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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). (J:94077)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Glb1 Mutation: 50 strains or lines available

References

• Original: J:94077 Mutant Mouse Regional Resource Centers, Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC). Unpublished. 2004-2015
• All: 1 reference(s)