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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Itpr2tm1Kmik
targeted mutation 1, Katsuhiko Mikoshiba
MGI:3604623
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Itpr2tm1Kmik/Itpr2tm1Kmik involves: 129S4/SvJae MGI:5630054
hm2
Itpr2tm1Kmik/Itpr2tm1Kmik involves: 129S4/SvJae * C57BL/6J MGI:3607083
cx3
Itpr2tm1Kmik/Itpr2tm1Kmik
Itpr3tm1Kmik/Itpr3tm1Kmik
involves: 129S4/SvJae * C57BL/6J MGI:3607086


Genotype
MGI:5630054
hm1
Allelic
Composition
Itpr2tm1Kmik/Itpr2tm1Kmik
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr2tm1Kmik mutation (2 available); any Itpr2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• sweat glands show a 40-50% reduction in amplitude of calcium signals in response to stimulation with acetylcholine
• injection of pilocarpine into the hind paws to induce a sweat response shows that the increase in sweat gland number that is seen in wild-type mice with time is attenuated and sweat volume is decreased

integument
• sweat glands show a 40-50% reduction in amplitude of calcium signals in response to stimulation with acetylcholine
• injection of pilocarpine into the hind paws to induce a sweat response shows that the increase in sweat gland number that is seen in wild-type mice with time is attenuated and sweat volume is decreased

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
isolated anhidrosis with normal sweat glands DOID:0060603 OMIM:106190
J:217699




Genotype
MGI:3607083
hm2
Allelic
Composition
Itpr2tm1Kmik/Itpr2tm1Kmik
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr2tm1Kmik mutation (2 available); any Itpr2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are viable and fertile with normal pancreatic and salivary secretion




Genotype
MGI:3607086
cx3
Allelic
Composition
Itpr2tm1Kmik/Itpr2tm1Kmik
Itpr3tm1Kmik/Itpr3tm1Kmik
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr2tm1Kmik mutation (2 available); any Itpr2 mutation (9 available)
Itpr3tm1Kmik mutation (2 available); any Itpr3 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• on a dry food diet mice do not survive beyond 4 weeks of age switching to a wet mash diet after weaning allows double homozygotes to survive

behavior/neurological
• double homozygotes do not consume dry food but do consume wet mash food

digestive/alimentary system
• acinar cells are highly eosinophilic
• abnormal accumulation of zymogen granules
• the total amount of feces produced by adult double homozygotes fed a wet mash diet is increased
• the total amount of lipid and protein in the feces is increased
• cholinergically induced amylase secretion is impaired
• pilocarpine-stimulated salivation is reduced and electrolyte concentrations in saliva are abnormal

growth/size/body
• even on a wet mash diet double homozygotes weigh less than controls
• seen after weaning with a dry food diet but not with a wet mash diet
• when fed a predigested diet for 1 week double homozygotes gain weight while those on a wet mash diet do not
• double homozygotes gain less weight after birth

homeostasis/metabolism
• pilocarpine-stimulated salivation is reduced and electrolyte concentrations in saliva are abnormal

endocrine/exocrine glands
• acinar cells are highly eosinophilic
• abnormal accumulation of zymogen granules
• cholinergically induced amylase secretion is impaired
• pilocarpine-stimulated salivation is reduced and electrolyte concentrations in saliva are abnormal
• almost no carbachol-stimulated amylase, lipase, or trysinogen secretion occurs





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
05/26/2020
MGI 6.15
The Jackson Laboratory