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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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory