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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 (3 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 (J:173516)
• numerous vacuoles are present at 4 weeks (J:173516)
• lysosomes are enlarged (J:173516)
• poorly developed intracellular canaliculi network after histamine stimulation (J:173516)
• parietal cells at 4 weeks of age are grossly enlarged (J:173516)
• numerous vacuoles are present at 4 weeks (J:173516)
• lysosomes are enlarged (J:173516)
• poorly developed intracellular canaliculi network after histamine stimulation (J:173516)

growth/size/body
• growth and survival are normal to 6 months of age (J:173516)
• growth retardation after 6 months (J:173516)
• growth and survival are normal to 6 months of age (J:173516)
• growth retardation after 6 months (J:173516)

behavior/neurological
• after 6 months (J:173516)
• after 6 months (J:173516)

digestive/alimentary system
• parietal cells at 4 weeks of age are grossly enlarged (J:173516)
• numerous vacuoles are present at 4 weeks (J:173516)
• lysosomes are enlarged (J:173516)
• poorly developed intracellular canaliculi network after histamine stimulation (J:173516)
• parietal cells at 4 weeks of age are grossly enlarged (J:173516)
• numerous vacuoles are present at 4 weeks (J:173516)
• lysosomes are enlarged (J:173516)
• poorly developed intracellular canaliculi network after histamine stimulation (J:173516)
• increased stomach mass (J:173516)
• increased stomach mass (J:173516)
• basal stomach acid content at 16 weeks of age is significantly reduced (J:173516)
• basal stomach acid content at 16 weeks of age is significantly reduced (J:173516)

homeostasis/metabolism
• elevated serum gastrin levels (J:173516)
• elevated serum gastrin levels (J:173516)

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
02/02/2016
MGI 6.02
The Jackson Laboratory