About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hexblysd
lysosomal storage disease
MGI:5690250
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hexblysd/Hexblysd B6.Cg-Hexblysd/J MGI:6507051


Genotype
MGI:6507051
hm1
Allelic
Composition
Hexblysd/Hexblysd
Genetic
Background
B6.Cg-Hexblysd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexblysd mutation (1 available); any Hexb mutation (91 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism

behavior/neurological
• head tremor presents as a results of neurodegeneration with a median time of onset on the C67BL/6J background of 3.8 months

cellular
• cytoplasmic vacuolation is found in CNS and peripheral neurons, epithelia of the gall bladder, bile duct, denial vesicle, epididymides, renal tubes and bronchia, and in splenic phagocytes
• neuronal cytoplasm has many lysosomes distended with inspissated material

nervous system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sandhoff disease DOID:3323 OMIM:268800
J:301674





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory