Phenotypes associated with this allele

• Allele Symbol: Aqp5^tm1Amn
• Allele Name: targeted mutation 1, Anil G Menon
• Allele ID: MGI:2655164
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aqp5^tm1Amn/Aqp5^tm1Amn	involves: 129X1/SvJ * Black Swiss	MGI:2655173

Genotype
MGI:2655173

hm1

• Allelic Composition: Aqp5^tm1Amn/Aqp5^tm1Amn
• Genetic Background: involves: 129X1/SvJ * Black Swiss

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

mortality/aging

mortality/aging ( J:82588 )

N • from birth to >1 year of age, homozygotes show no significant differences in morbidity, mortality, or longevity relative to heterozygous or wild-type littermates

prenatal lethality, incomplete penetrance ( J:82588 )

• at birth, genotypic ratios are 1:2:0.5 instead of the expected 1:2:1 Mendelian ratio, suggesting embryonic loss

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:82588 )

N • at 12-16 weeks, the submandibular, sublingual, and parotid glands of homozygotes appear histologically normal

abnormal salivary gland physiology ( J:82588 )

• homozygotes display a significant increase in osmolality of pilocarpine-stimulated salivary secretion relative to wild-type

• mutant salivary glands exhibit a significant decrease in mercury-sensitive, acinar cell water permeability: parotid acinar cells display an ~65% reduction in the rate of hypertonicity-induced cell shrinkage whereas sublingual acinar cells show an ~77% decrease in the rate of cell shrinkage relative to wild-type

• strikingly, mercury enhances the water permeability of both parotid and sublingual acinar cells in mutant mice

• under anisosmotic conditions, mutant acinar cells fail to regulate cell volume as efficiently as wild-type acinar cells

decreased salivation ( J:82588 )

• homozygotes sustain a ~65% reduction in the rate of pilocarpine-stimulated saliva flow under different physiological concentrations of agonist

digestive/alimentary system

abnormal salivary gland physiology ( J:82588 )

• homozygotes display a significant increase in osmolality of pilocarpine-stimulated salivary secretion relative to wild-type

• mutant salivary glands exhibit a significant decrease in mercury-sensitive, acinar cell water permeability: parotid acinar cells display an ~65% reduction in the rate of hypertonicity-induced cell shrinkage whereas sublingual acinar cells show an ~77% decrease in the rate of cell shrinkage relative to wild-type

• strikingly, mercury enhances the water permeability of both parotid and sublingual acinar cells in mutant mice

• under anisosmotic conditions, mutant acinar cells fail to regulate cell volume as efficiently as wild-type acinar cells

decreased salivation ( J:82588 )

• homozygotes sustain a ~65% reduction in the rate of pilocarpine-stimulated saliva flow under different physiological concentrations of agonist

homeostasis/metabolism

abnormal fluid regulation ( J:82588 )

• salivary acinar cells from homozygous mutant mice show reduced membrane water permeability and altered cell volume regulation

• notably, hyposalivation is not caused by alterations in whole animal fluid, blood gas or plasma electrolyte homeostasis

decreased salivation ( J:82588 )

• homozygotes sustain a ~65% reduction in the rate of pilocarpine-stimulated saliva flow under different physiological concentrations of agonist

increased bronchoconstrictive response ( J:72954 )

• homozygotes display a significantly increased dose-dependent bronchoconstriction in response to intravenously administered acetylcholine or inhaled methacholine

• under normal physiological conditions, homozygotes display neither pulmonary edema nor defects in gas exchange

respiratory system

increased bronchoconstrictive response ( J:72954 )

• homozygotes display a significantly increased dose-dependent bronchoconstriction in response to intravenously administered acetylcholine or inhaled methacholine

• under normal physiological conditions, homozygotes display neither pulmonary edema nor defects in gas exchange

increased airway resistance ( J:72954 )

• increased total lung resistance in response to an i.v. brochoconstrictor challenge with acetylcholine

increased airway responsiveness ( J:72954 )

• homozygotes exhibit increased airway responsiveness to an i.v. brochoconstrictor challenge with acetylcholine or an aerosolized methacholine challenge

• hyperresponsiveness to bronchoconstriction by cholinergic stimulation is not due to changes in surfactant protein-B concentration

decreased lung compliance ( J:72954 )

• decreased dynamic lung compliance in response to an i.v. brochoconstrictor challenge with acetylcholine

growth/size/body

decreased body weight ( J:82588 )

• adult homozygotes weigh ~10% less than heterozygous or wild-type littermates

muscle

muscle phenotype ( J:72954 )

N • tracheal rings from mutant mice show no significant differences in smooth muscle contractility relative to wild-type

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:85609 )

N • under non-stress conditions, 5- to 8-month-old homozygotes display normal hearing sensitivity as well as normal inner ear morphology

behavior/neurological

behavior/neurological phenotype ( J:85609 )

N • at 5-8 months, homozygotes display no circling or waltzing behaviors and swim normally, indicating normal vestibular function