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Phenotypes Associated with This Genotype
Genotype
MGI:5050100
Allelic
Composition
Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln1tm1Asoy mutation (1 available); any Mcoln1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• parietal cells at 4 weeks of age are grossly enlarged
• numerous vacuoles are present at 4 weeks
• lysosomes are enlarged
• poorly developed intracellular canaliculi network after histamine stimulation

growth/size/body
• growth and survival are normal to 6 months of age
• growth retardation after 6 months

behavior/neurological
• after 6 months

digestive/alimentary system
• parietal cells at 4 weeks of age are grossly enlarged
• numerous vacuoles are present at 4 weeks
• lysosomes are enlarged
• poorly developed intracellular canaliculi network after histamine stimulation
• increased stomach mass
• basal stomach acid content at 16 weeks of age is significantly reduced

homeostasis/metabolism
• elevated serum gastrin levels

Mouse Models of Human Disease
OMIM ID Ref(s)
Mucolipidosis IV; ML4 252650 J:173516


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory