About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mcoln1tm1Sasl
targeted mutation 1, Susan A Slaugenhaupt
MGI:3794204
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mcoln1tm1Sasl/Mcoln1tm1Sasl involves: 129S6/SvEvTac * C57BL/6 MGI:3795387


Genotype
MGI:3795387
hm1
Allelic
Composition
Mcoln1tm1Sasl/Mcoln1tm1Sasl
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln1tm1Sasl mutation (1 available); any Mcoln1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average age of death is at 8 months of age

behavior/neurological
• at 6 months of age
• nearly all mice exhibit clasping at 6 to 9 months of age unlike wild-type mice
• at 3 months of age mice had lost strength compared to homozygotes at 2 months of age or wild-type mice at 3 months of age
• at 6 to 9 months of age
• at 6.5 months of age
• at 6 to 9 months of age
• mice exhibit progressive hindlimb paralysis beginning at 6.5 months of age

nervous system
• at 8 months, mice exhibit neurons (Purkinje, astrocyte, microglial, and pyramidal cells) with large numbers of inclusions mostly confined to the basilar cytoplasm
• at 7 to 9 months of age
• mice exhibit optic nerve pallor

vision/eye
• mice exhibit optic nerve pallor

digestive/alimentary system
• mice exhibit extremely large vesicles in the gastric mucosa with only minor reductions in the number of granular pit cells and zymogenic cells

cardiovascular system
• subtle defect at 6 to 9 months of age

adipose tissue
• at 6 to 9 months of age

growth/size/body
• at 6 to 9 months of age
• at 6 to 9 months of age

muscle
• subtle defect at 6 to 9 months of age
• at 6 to 9 months of age

renal/urinary system
• at 7 to 9 months of age

homeostasis/metabolism

immune system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

integument
• at 6 to 9 months of age

hematopoietic system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mucolipidosis type IV DOID:0080490 OMIM:252650
J:135368





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
10/22/2024
MGI 6.24
The Jackson Laboratory