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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 (27 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
• 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 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





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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
01/12/2022
MGI 6.17
The Jackson Laboratory