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Hexblysd
Spontaneous Allele Detail
Summary
Symbol: Hexblysd
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: Hexblysd page
Mutation
origin
Strain of Origin:  NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Intragenic deletion
 
Mutation detailsThis spontaneous 6 base pair deletion GCTCCG removed amino acids leucine and arginine from positions 259 and 260 (p.(Leu259_Arg260del)). (J:301674)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

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
03/19/2024
MGI 6.23
The Jackson Laboratory