Hexb^lysd
Spontaneous Allele Detail

Summary

• Symbol: Hexb^lysd
• Name: hexosaminidase B; lysosomal storage disease
• MGI ID: MGI:5690250
• Gene: Hexb Location: Chr13:97312839-97334865 bp, - strand Genetic Position: Chr13, 50.66 cM
• Alliance: Hexb^lysd page

Mutation origin

• Strain of Origin: NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: This spontaneous 6 base pair deletion GCTCCG removed amino acids leucine and arginine from positions 259 and 260 (p.(Leu259_Arg260del)). (J:301674)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Hexb Mutation: 91 strains or lines available

References

• Original: J:301674 Ochoa-Dragos Z, et al., Lysosomal Storage Disease Caused by a Spontaneous Hexb Gene Mutation in immunodeficient NOD.Cg-Prkdc ^{Il2rgtm1Wjl/SzJ Mice. J Am Assoc Lab Anim Sci. 2019;58(5):Abstr P237}
• All: 1 reference(s)