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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Aqp3tm1Ask
targeted mutation 1, Alan S Verkman
MGI:2150021
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Aqp3tm1Ask/Aqp3tm1Ask involves: C57BL/6J MGI:2174933
hm2
 		Aqp3tm1Ask/Aqp3tm1Ask involves: C57BL/6J * CD-1 MGI:3655810
cx3
 		Aqp3tm1Ask/Aqp3tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask 		involves: C57BL/6J MGI:2655442
cx4
 		Aqp3tm1Ask/Aqp3tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask 		involves: C57BL/6J * CD-1 MGI:3783407


Genotype
MGI:2174933
hm1
Allelic
Composition		 Aqp3tm1Ask/Aqp3tm1Ask
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp3tm1Ask mutation (0 available); any Aqp3 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
decreased urine osmolality ( J:61675 )
• urine osmolality is decreased to 262 milliosmol compared to 1270 milliosmol in wild-type mice
• following 36 hour water deprivation or 1-desamino-8-D-arginine-vasopressin treatment increase in urine osmolality is much less than that in wild-type mice
abnormal renal water transport ( J:61675 )
• the osmotic water permeability of the basolateral membrane of cortical collecting ducts is decreased at least 3-fold compared to wild-type mice
• expression of Aqp2 is decreased particularly in the renal cortex; however expression of Aqp1 and Aqp4 is similar to wild-type
polyuria ( J:61675 )
• about a 10-fold increase in urine output; however, kidney and urinary bladder morphology are similar to wild-type

behavior/neurological
polydipsia ( J:61675 )
• about a 10-fold increase in fluid consumption

homeostasis/metabolism
increased blood osmolality ( J:61675 )
• plasma osmolality is mildly elevated but serum electrolyte, urea, creatinine, and phosphorus levels are similar to wild-type
decreased urine osmolality ( J:61675 )
• urine osmolality is decreased to 262 milliosmol compared to 1270 milliosmol in wild-type mice
• following 36 hour water deprivation or 1-desamino-8-D-arginine-vasopressin treatment increase in urine osmolality is much less than that in wild-type mice

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
nephrogenic diabetes insipidus DOID:12387 J:61675




Genotype
MGI:3655810
hm2
Allelic
Composition		 Aqp3tm1Ask/Aqp3tm1Ask
Genetic
Background		 involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp3tm1Ask mutation (0 available); any Aqp3 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:71154 )
N
• auditory brainstem response thresholds are similar to wild-type

vision/eye
vision/eye phenotype ( J:62579 )
N
• basal and pilocarpine-stimulated tear production and chloride concentration are similar to wild-type

taste/olfaction
abnormal olfactory epithelium morphology ( J:106285 )
• osmotic water permeability is inhibited by 35% compared to wild-type

respiratory system
abnormal olfactory epithelium morphology ( J:106285 )
• osmotic water permeability is inhibited by 35% compared to wild-type

craniofacial
abnormal olfactory epithelium morphology ( J:106285 )
• osmotic water permeability is inhibited by 35% compared to wild-type

growth/size/body
abnormal olfactory epithelium morphology ( J:106285 )
• osmotic water permeability is inhibited by 35% compared to wild-type




Genotype
MGI:2655442
cx3
Allelic
Composition		 Aqp3tm1Ask/Aqp3tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp3tm1Ask mutation (0 available); any Aqp3 mutation (28 available)
Aqp4tm1Ask mutation (0 available); any Aqp4 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
decreased urine osmolality ( J:61675 )
• urine osmolality is decreased when given free access to water and the increase in osmolality induced by 36 hour water deprivation or 1-desamino-8-D-arginine-vasopressin treatment is less than that in Aqp3 single homozygotes

homeostasis/metabolism
decreased urine osmolality ( J:61675 )
• urine osmolality is decreased when given free access to water and the increase in osmolality induced by 36 hour water deprivation or 1-desamino-8-D-arginine-vasopressin treatment is less than that in Aqp3 single homozygotes




Genotype
MGI:3783407
cx4
Allelic
Composition		 Aqp3tm1Ask/Aqp3tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask
Genetic
Background		 involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp3tm1Ask mutation (0 available); any Aqp3 mutation (28 available)
Aqp4tm1Ask mutation (0 available); any Aqp4 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
respiratory system
abnormal respiratory system physiology ( J:106285 )
• small (2-5%), significant reduction in lower airway humidification relative to wild-type
• 3-9% impairment of upper airway humidification compared to controls




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory