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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Aqp1tm1Ask
targeted mutation 1, Alan S Verkman
MGI:1857807
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Aqp1tm1Ask/Aqp1tm1Ask involves: C57BL/6J MGI:2174931
hm2
 		Aqp1tm1Ask/Aqp1tm1Ask involves: C57BL/6J * CD-1 MGI:3655809
cx3
 		Aqp1tm1Ask/Aqp1tm1Ask
Aqp7tm1.1Suc/Aqp7tm1.1Suc 		involves: 129S2/SvPas * C57BL/6J MGI:3609478
cx4
 		Aqp1tm1Ask/Aqp1tm1Ask
Aqp8tm1Ask/Aqp8tm1Ask 		involves: 129/Sv * C57BL/6 * CD-1 MGI:3613472
cx5
 		Aqp1tm1Ask/Aqp1tm1Ask
Slc14a1tm1Ask/Slc14a1tm1Ask 		involves: C57BL/6J MGI:3033387
cx6
 		Aqp1tm1Ask/Aqp1tm1Ask
Aqp5tm1Ask/Aqp5tm1Ask 		involves: C57BL/6J * CD-1 MGI:3783406
cx7
 		Aqp1tm1Ask/Aqp1tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask 		involves: C57BL/6J * CD-1 MGI:3783422


Genotype
MGI:2174931
hm1
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:56302 )
• significantly fewer homozygotes are obtained from heterozygous intercrosses, suggesting reduced prenatal lethality

renal/urinary system
decreased urine sodium level ( J:45888 )
• after water deprivation for 36 hrs, 80% of homozygotes display a urine sodium concentration of less than 10 mM
decreased urine osmolality ( J:45888 )
• euhydrated homozygotes exhibit a markedly low urine osmolality (580-610 mOsm) that does not increase after water deprivation for 36 hrs; in contrast, average urine osmolality in control mice is 1400 mOsm before water deprivation and increases to ~3000 mOsm after deprivation
• i.p. injection of the V2 receptor agonist DDAVP fails to cause a further increase in urine osmolality, indicating that the urinary concentrating defect does not involve central osmoreceptor sensing
abnormal renal water transport ( J:45888 , J:102454 )
• homozygotes show an ~8-fold reduction of osmotic water permeability (Pf) in apical membrane vesicles from kidney proximal tubules relative to wild-type mice (J:45888)
• the low urine Na+ concentration after water deprivation and absence of DDAVP effect, which should equalize urine and medullary interstitial osmolalities, indicate that homozygotes are unable to generate a hypertonic medullary interstitium by countercurrent multiplication (J:45888)
• water permeability of the brush-border membrane vesicles from the outer medulla is lower than that of wild-type (J:102454)

homeostasis/metabolism
increased blood osmolality ( J:45888 )
• after water deprivation for 36 hrs, homozygotes exhibit significant serum hyperosmolality relative to similarly-treated control mice (517 mOsm vs 311-325 mOsm, respectively)
• however, nearly all homozygotes can be resuscitated by oral water administration without morbidity
dehydration ( J:45888 )
• after water deprivation for 36 hrs, homozygotes appear severely dehydrated whereas wild-type mice appear grossly normal
decreased urine sodium level ( J:45888 )
• after water deprivation for 36 hrs, 80% of homozygotes display a urine sodium concentration of less than 10 mM
decreased urine osmolality ( J:45888 )
• euhydrated homozygotes exhibit a markedly low urine osmolality (580-610 mOsm) that does not increase after water deprivation for 36 hrs; in contrast, average urine osmolality in control mice is 1400 mOsm before water deprivation and increases to ~3000 mOsm after deprivation
• i.p. injection of the V2 receptor agonist DDAVP fails to cause a further increase in urine osmolality, indicating that the urinary concentrating defect does not involve central osmoreceptor sensing

behavior/neurological
lethargy ( J:45888 )
• after water deprivation for 36 hrs, homozygotes become markedly lethargic and in some cases unresponsive, whereas wild-type mice remain active

growth/size/body
decreased body weight ( J:45888 )
• after water deprivation for 36 hrs, homozygotes exhibit a significantly greater reduction in average body weight relative to similarly-treated wild-type mice (35% vs 20-22%, respectively)
postnatal growth retardation ( J:45888 )
• homozygotes are physically normal but exhibit a mild growth retardation relative to wild-type mice

endocrine/exocrine glands
endocrine/exocrine gland phenotype ( J:56302 )
N
• homozygotes display no defects in the volume or composition of saliva, as revealed by pilocarpine stimulation studies




Genotype
MGI:3655809
hm2
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Genetic
Background		 involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
postnatal growth retardation ( J:106259 )
• mice grow 10-13% slower than wild-type animals

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 , J:126927 )
N
• basal and pilocarpine-stimulated tear production and chloride concentration are similar to wild-type (J:62579)
• following vaso-obliteration, neovascular response is not significantly different from wild-type; rate and and relative area of neovascularization are similar (J:126927)

cardiovascular system
abnormal myocardial fiber physiology ( J:116293 )
• cardiac vesicles prepared from hearts exhibit small but significant reduction in water permeability compared to controls
decreased vascular permeability ( J:106259 )
• water permeability is 10-fold lower than in wild-type lungs

behavior/neurological
behavior/neurological phenotype ( J:123606 )
N
• mutants and wild-type show similar nociceptive responses to chemical, mechanical and thermal stimuli

nervous system
nervous system phenotype ( J:123606 )
N
• electrophysiological responses of wide dynamic range neurons in the spinal cord are similar between mutant and wild-type mice
• deep dorsal horn neurons show similar electrophysiological responses to thermal stimulation in mutant and wild-type samples123606

respiratory system
abnormal respiratory system physiology ( J:106259 )
• lung water accumulation is decreased relative to wild-type; edema formation resulting from perfusion of lungs is reduced compared to controls

reproductive system
dilated rete testis ( J:125658 )
• rete testes slightly dilated compared to wild-type

endocrine/exocrine glands
dilated rete testis ( J:125658 )
• rete testes slightly dilated compared to wild-type




Genotype
MGI:3609478
cx3
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Aqp7tm1.1Suc/Aqp7tm1.1Suc
Genetic
Background		 involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
Aqp7tm1.1Suc mutation (0 available); any Aqp7 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
increased urine glucose level ( J:102454 )
• higher than in wild-type and single homozygous Aqp1 mice, however plasma and urine urea levels are normal
decreased urine osmolality ( J:102454 )
• before and after a 36 hour water-depriavation period, urine osmolarity is reduced compared to homozygous Aqp1 mice
abnormal kidney physiology ( J:102454 )
• water permeability of the brush-border membrane vesicles from the outer medulla is lower than that of single homozygous Aqp1 mice and wild-type
polyuria ( J:102454 )
• under normal conditions, urine volume increases significantly compared to homozygous Aqp1 mice

growth/size/body
weight loss ( J:102454 )
• observe a significantly greater weight loss after dehydration than in homozygous Aqp1 mice

homeostasis/metabolism
increased urine glucose level ( J:102454 )
• higher than in wild-type and single homozygous Aqp1 mice, however plasma and urine urea levels are normal
decreased urine osmolality ( J:102454 )
• before and after a 36 hour water-depriavation period, urine osmolarity is reduced compared to homozygous Aqp1 mice




Genotype
MGI:3613472
cx4
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Aqp8tm1Ask/Aqp8tm1Ask
Genetic
Background		 involves: 129/Sv * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
Aqp8tm1Ask mutation (0 available); any Aqp8 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
decreased urine osmolality ( J:104681 )
• similar urinary hypoosmolality after water deprivation as single homozygous Aqp1 mice

renal/urinary system
decreased urine osmolality ( J:104681 )
• similar urinary hypoosmolality after water deprivation as single homozygous Aqp1 mice




Genotype
MGI:3033387
cx5
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
Slc14a1tm1Ask mutation (0 available); any Slc14a1 mutation (39 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:79279 )
• only about 50% survive to 10 days of age
• 100% mortality by 2 weeks of age

growth/size/body
postnatal growth retardation ( J:79279 )
• although normal in size at birth, mice are 30% smaller than normal by 11 days of age

hematopoietic system
high mean erythrocyte cell number ( J:79279 )
• red blood cell count somewhat elevated
abnormal mean corpuscular volume ( J:79279 )
• reduced water permeability of red blood cells




Genotype
MGI:3783406
cx6
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Aqp5tm1Ask/Aqp5tm1Ask
Genetic
Background		 involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
Aqp5tm1Ask mutation (0 available); any Aqp5 mutation (16 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
respiratory system
abnormal respiratory system physiology ( J:106285 )
• small (4-7%), significant reduction in lower airway humidification relative to wild-type
• 3-9% impairment of upper airway humidification compared to controls




Genotype
MGI:3783422
cx7
Allelic
Composition		 Aqp1tm1Ask/Aqp1tm1Ask
Aqp4tm1Ask/Aqp4tm1Ask
Genetic
Background		 involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp1tm1Ask mutation (0 available); any Aqp1 mutation (21 available)
Aqp4tm1Ask mutation (0 available); any Aqp4 mutation (42 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
postnatal growth retardation ( J:106259 )
• mice grow 15-20% slower than wild-type animals

respiratory system
abnormal respiratory system physiology ( J:106259 )
• lower rate of water transport in lungs relative to Aqp1-null animals is measured

cardiovascular system
decreased vascular permeability ( J:106259 )
• airspace-capillary water permeability in lungs is reduced compared to Aqp1-null mice
• water permeability is 15-fold lower than in wild-type lungs




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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
04/16/2024
MGI 6.23 		The Jackson Laboratory