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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Akr1b1tm1Skc
targeted mutation 1, Sookja K Chung
MGI:2183239
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Akr1b1tm1Skc/Akr1b1tm1Skc either: B6.129S7-Akr1b3tm1Skc or (involves: 129S7/SvEvBrd * C57BL/6N) MGI:2654853
cx2
Akr1b1tm1Skc/Akr1b1tm1Skc
SordC57BL/Lia/SordC57BL/Lia
involves: 129S7/SvEvBrd * C57BL/LiA MGI:3836916


Genotype
MGI:2654853
hm1
Allelic
Composition
Akr1b1tm1Skc/Akr1b1tm1Skc
Genetic
Background
either: B6.129S7-Akr1b3tm1Skc or (involves: 129S7/SvEvBrd * C57BL/6N)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akr1b1tm1Skc mutation (0 available); any Akr1b1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygotes display polydipsia

renal/urinary system
• in euhydrated homozygotes, urinary concentration of creatinine is reduced relative to wild-type controls
• impairment of water reabsorption is observed irrespective of whether water is freely available or withheld
• in euhydrated homozygotes, urinary concentration of Cl- ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of K+ ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of Na+ ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of Ca2+ ions is reduced relative to wild-type controls
• at 4 weeks of age, homozygotes are impaired in their urine-concentrating ability relative to wild-type controls
• the urine osmolality of euhydrated mutant mice is about one-third of that in wild-type mice
• after either injection of the V2R agonist dDAVP or water deprivation, homozygotes display only a ~28% increase in urine osmilarity vs a 85% increase in similarly-treated wild-type mice
• however, the total amount of urinary solutes excreted within a 24-hr period is similar to that excreted in wild-type mice, and no significant differences in serum solute or albumin levels are observed
• the urinary concentration of AVP is relatively normal, while the total amount of AVP excreted in a 24-hr period is higher than that excreted in wild-type mice, indicating that AVP synthesis and secretion is unaffected
• in euhydrated homozygotes, urinary concentration of urea is reduced relative to wild-type controls
• at 36 weeks of age, the lumens of mutant collecting tubules appear extended
• however, no major kidney abnormalities are noted at 4 or 12 weeks of age, suggesting that renal tubule dilation is probably a consequence of the defect in urine-concentrating ability
• at 36 weeks of age, the inner medulla of mutant kidneys is abnormal
• homozygotes display polyuria

homeostasis/metabolism
N
• homozygotes show normal blood glucose levels, indicating that polydipsia and polyuria are not due to diabetes mellitus
• synthesis and secretion of the antidiuretic hormone arginine vasopressin (AVP) is normal
• in euhydrated homozygotes, urinary concentration of creatinine is reduced relative to wild-type controls
• impairment of water reabsorption is observed irrespective of whether water is freely available or withheld
• in euhydrated homozygotes, urinary concentration of Cl- ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of K+ ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of Na+ ions is reduced relative to wild-type controls
• in euhydrated homozygotes, urinary concentration of Ca2+ ions is reduced relative to wild-type controls
• at 4 weeks of age, homozygotes are impaired in their urine-concentrating ability relative to wild-type controls
• the urine osmolality of euhydrated mutant mice is about one-third of that in wild-type mice
• after either injection of the V2R agonist dDAVP or water deprivation, homozygotes display only a ~28% increase in urine osmilarity vs a 85% increase in similarly-treated wild-type mice
• however, the total amount of urinary solutes excreted within a 24-hr period is similar to that excreted in wild-type mice, and no significant differences in serum solute or albumin levels are observed
• the urinary concentration of AVP is relatively normal, while the total amount of AVP excreted in a 24-hr period is higher than that excreted in wild-type mice, indicating that AVP synthesis and secretion is unaffected
• in euhydrated homozygotes, urinary concentration of urea is reduced relative to wild-type controls




Genotype
MGI:3836916
cx2
Allelic
Composition
Akr1b1tm1Skc/Akr1b1tm1Skc
SordC57BL/Lia/SordC57BL/Lia
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/LiA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akr1b1tm1Skc mutation (0 available); any Akr1b1 mutation (27 available)
SordC57BL/Lia mutation (0 available); any Sord mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice do not have the high incidence of cataracts that Sord homozygotes have





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory