Phenotypes associated with this allele

• Allele Symbol: Itpr2^tm1Kmik
• Allele Name: targeted mutation 1, Katsuhiko Mikoshiba
• Allele ID: MGI:3604623
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itpr2^tm1Kmik/Itpr2^tm1Kmik	involves: 129S4/SvJae	MGI:5630054
hm2	Itpr2^tm1Kmik/Itpr2^tm1Kmik	involves: 129S4/SvJae * C57BL/6J	MGI:3607083
cx3	Itpr2^tm1Kmik/Itpr2^tm1Kmik Itpr3^tm1Kmik/Itpr3^tm1Kmik	involves: 129S4/SvJae * C57BL/6J	MGI:3607086

Genotype
MGI:5630054

hm1

• Allelic Composition: Itpr2^tm1Kmik/Itpr2^tm1Kmik
• Genetic Background: involves: 129S4/SvJae

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

abnormal sweat gland physiology ( J:217699 )

• sweat glands show a 40-50% reduction in amplitude of calcium signals in response to stimulation with acetylcholine

hypohidrosis ( J:217699 )

• 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

abnormal sweat gland physiology ( J:217699 )

• sweat glands show a 40-50% reduction in amplitude of calcium signals in response to stimulation with acetylcholine

hypohidrosis ( J:217699 )

• 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: Itpr2^tm1Kmik/Itpr2^tm1Kmik
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

normal phenotype

no abnormal phenotype detected ( J:101380 )

• homozygotes are viable and fertile with normal pancreatic and salivary secretion

Genotype
MGI:3607086

cx3

• Allelic Composition: Itpr2^tm1Kmik/Itpr2^tm1Kmik; Itpr3^tm1Kmik/Itpr3^tm1Kmik
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

premature death ( J:101380 )

• 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

abnormal food intake ( J:101380 )

• double homozygotes do not consume dry food but do consume wet mash food

digestive/alimentary system

abnormal pancreatic acinar cell morphology ( J:101380 )

• acinar cells are highly eosinophilic

pancreatic acinar cell zymogen granule accumulation ( J:101380 )

• abnormal accumulation of zymogen granules

abnormal feces composition ( J:101380 )

• the total amount of lipid and protein in the feces is increased

abnormal feces lipid level ( J:101380 )

steatorrhea ( J:101380 )

increased defecation amount ( J:101380 )

• the total amount of feces produced by adult double homozygotes fed a wet mash diet is increased

abnormal salivary gland physiology ( J:101380 )

• cholinergically induced amylase secretion is impaired

decreased salivation ( J:101380 )

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

growth/size/body

decreased body weight ( J:101380 )

• even on a wet mash diet double homozygotes weigh less than controls

weight loss ( J:101380 )

• 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

postnatal growth retardation ( J:101380 )

• double homozygotes gain less weight after birth

homeostasis/metabolism

abnormal feces lipid level ( J:101380 )

steatorrhea ( J:101380 )

decreased salivation ( J:101380 )

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

decreased circulating glucose level ( J:101380 )

endocrine/exocrine glands

abnormal pancreatic acinar cell morphology ( J:101380 )

• acinar cells are highly eosinophilic

pancreatic acinar cell zymogen granule accumulation ( J:101380 )

• abnormal accumulation of zymogen granules

abnormal salivary gland physiology ( J:101380 )

• cholinergically induced amylase secretion is impaired

decreased salivation ( J:101380 )

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

abnormal pancreas secretion ( J:101380 )

• almost no carbachol-stimulated amylase, lipase, or trysinogen secretion occurs