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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc14a2tm1Raf
targeted mutation 1, Robert A Fenton
MGI:3043851
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc14a2tm1Raf/Slc14a2tm1Raf B6.129S6-Slc14a2tm1Raf MGI:5432780
hm2
Slc14a2tm1Raf/Slc14a2tm1Raf involves: 129S6/SvEvTac * C57BL/6J MGI:3043854


Genotype
MGI:5432780
hm1
Allelic
Composition
Slc14a2tm1Raf/Slc14a2tm1Raf
Genetic
Background
B6.129S6-Slc14a2tm1Raf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc14a2tm1Raf mutation (0 available); any Slc14a2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• homozygotes exhibit a normal GFR on two levels of protein intake (4% and 40%), as measured by FITC-inulin clearance
• total renal blood flow is not significantly altered under baseline conditions
• increased blood congestion in mutant kidneys, esp. in the renal medulla
• in response to L-NAME infusion, homozygotes exhibit a greater % decrease (39%) in total renal blood flow relative to similarly-treated wild-type controls (27%)
• under basal conditions on a 20% protein diet, 24-hr total urinary nitrate and nitrite excretion rates are more than double those in wild-type controls
• on a high (40%) protein diet, homozygotes exhibit decreased urinary osmolality relative to wild-type controls
• after an 18-hr water restriction, homozygotes on either a 20% or 40% protein diet (but not a 4% protein diet) are unable to raise their maximal urinary osmolality above that noted under basal conditions
• however, no differences in osmolar excretion are observed on a high protein diet
• no decrease in aquaporin-2 or -3 expression is observed
• fractional urea excretion is markedly increased on both the 4% and 40% protein diets relative to wild-type controls, reaching 102% of the filtered load on a 40% protein diet
• in contrast, fractional excretion rates of Na and K are not significantly altered
• when normalized by brain weight, wet kidney weight is significantly reduced relative to that in wild-type controls
• however, no differences in cell number, cell type or morphology are observed
• on a high (40%) protein diet, homozygotes exhibit a marked depletion of urea in the inner medulla relative to wild-type controls
• however, no differences in Na or K concentrations are observed in the cortex, outer medulla, or inner medulla
• on a normal (20%) protein diet, homozygotes exhibit a significantly increased urine flow relative to wild-type controls
• on a high (40%) protein diet, homozygotes show a greater urine volume than wild-type controls, resulting in a marked reduction in the urine/plasma (U/P) inulin ratio
• after an 18-hr water restriction, homozygotes on either a 20% or 40% protein diet (but not a 4% protein diet) are unable to reduce their urine flow to levels below those observed under basal conditions
• homozygotes exhibit a marked urinary concentrating defect due to a failure of urea transport from the inner medullary collecting duct lumen to the inner medullary interstitium, resulting in osmotic diuresis

homeostasis/metabolism
N
• under basal conditions (free access to water) on a 20% protein diet, normal plasma vasopressin levels are observed
• on a high (40%) protein diet, homozygotes exhibit significantly lower plasma urea levels than wild-type controls
• in contrast, plasma concentrations of Na, K, and Cl are not significantly altered
• under basal conditions on a 20% protein diet, 24-hr total urinary nitrate and nitrite excretion rates are more than double those in wild-type controls
• on a high (40%) protein diet, homozygotes exhibit decreased urinary osmolality relative to wild-type controls
• after an 18-hr water restriction, homozygotes on either a 20% or 40% protein diet (but not a 4% protein diet) are unable to raise their maximal urinary osmolality above that noted under basal conditions
• however, no differences in osmolar excretion are observed on a high protein diet
• no decrease in aquaporin-2 or -3 expression is observed
• fractional urea excretion is markedly increased on both the 4% and 40% protein diets relative to wild-type controls, reaching 102% of the filtered load on a 40% protein diet
• in contrast, fractional excretion rates of Na and K are not significantly altered

behavior/neurological
• on a normal (20%) protein diet, homozygotes exhibit significantly greater fluid consumption than wild-type controls

growth/size/body
• during an 18-hr water restriction, homozygotes on a 20% or 40% protein diet exhibit a body weight reduction of 18% and 24%, respectively
• however, no significant loss of body weight is noted after water restriction on a low (4%) protein diet

cardiovascular system
• increased blood congestion in mutant kidneys, esp. in the renal medulla
• in response to L-NAME infusion, homozygotes exhibit a greater % decrease (39%) in total renal blood flow relative to similarly-treated wild-type controls (27%)

reproductive system
• when normalized by brain weight, wet testis weight is significantly increased relative to that in wild-type controls
• however, no differences in cell number, cell type or morphology are observed

endocrine/exocrine glands
• when normalized by brain weight, wet testis weight is significantly increased relative to that in wild-type controls
• however, no differences in cell number, cell type or morphology are observed




Genotype
MGI:3043854
hm2
Allelic
Composition
Slc14a2tm1Raf/Slc14a2tm1Raf
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc14a2tm1Raf mutation (0 available); any Slc14a2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• on a 20% protein diet urine osmolality is significantly lower compared to wild-type mice
• with water restriction on a 20% protein diet homozygous mice are unable to increase their urine osmolality this defect is greatly reduced on a 4% protein diet
• on a 20% or 4% protein diet with water restriction homozygous mice have lower maximal urine osmolality

renal/urinary system
• on a 20% protein diet urine osmolality is significantly lower compared to wild-type mice
• with water restriction on a 20% protein diet homozygous mice are unable to increase their urine osmolality this defect is greatly reduced on a 4% protein diet
• on a 20% or 4% protein diet with water restriction homozygous mice have lower maximal urine osmolality
• the urea permeability of the inner medullary collecting duct is significantly lower in homozygous mutants
• vasopressin has no effect on urea permeability in homozygous mice unlike in wild-type mice where vasopressin significantly increases urea permeability
• on a 20% or 4% protein diet without water restriction homozygous mice have significantly greater urine flow and with water restriction are unable to decrease urine flow

reproductive system
N
• homozygous mice are fertile





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory