Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm2Mak mutation
(4 available);
any
Pten mutation
(81 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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mortality/aging
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• a sharp decline in survival is noted after P15
• none of the mice survive beyond 26 days of life
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growth/size/body
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• at 2 wks of age, mice are readily identified by their smaller body size and sickly appearance
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renal/urinary system
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• neonatal kidneys display kinked collecting ducts
• DBA staining of collecting tubules within the cortex indicates higher density and cystic morphology
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• at P14, the density of glomeruli within the outermost cortical layer is significantly increased
• at P14, most glomeruli are small and unevenly positioned within the cortex (i.e. subcapsular)
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• at P14, aberrant subcapsular glomeruli show little evidence of capillary blood flow
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• in vitro, E11.5 kidneys cultured for 48 hrs in serum free media display subtle branching defects including asymmetric ureteric bud tips that are often dilated, abnormally enlarged misshapen ampullae, discontinuous and jagged laminin basement membranes, kinked ureteric bud stalks and small ectopic bud outgrowths
• neonatal kidneys exhibit terminal end buds that are often dilated and connected to misshaped stalks
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• in vitro, E11.5 kidneys cultured for 48 hrs in serum free media display small ectopic bud outgrowths
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cardiovascular system
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• at P14, aberrant subcapsular glomeruli show little evidence of capillary blood flow
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm2Kem mutation
(1 available);
any
Ctnnb1 mutation
(49 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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mortality/aging
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• mutant pups reach term but die within 24 hrs of birth
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renal/urinary system
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• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells
• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed
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• 57% of newborn pups exhibit bilateral tiny dysplastic kidney rudiments which are deficient in nephrons, collecting ducts, and cortico-medullary patterning
• a dysgenetic kidney phenotype is histologically evident at E13.5
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• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
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• at P0, dysplastic kidney rudiments are deficient in collecting ducts
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• at P0, newborn pups with dysplastic kidney rudiments lack a nephrogenic zone
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• at P0, dysplastic kidney rudiments are tiny
• at E12.5, mutant kidneys are slightly smaller than wild-type but histologically normal
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• at P0, dysplastic kidney rudiments exhibit very few nephron structures
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• 43% of newborn pups exhibit bilateral renal aplasia
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• at P0, newborn pups with dysplastic kidney rudiments exhibit hydroureter
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• at E12.5, mutant kidneys show a highly attenuated ureteric branching pattern relative to wild-type kidneys
• by E13.5, ureteric bud tissue is reduced and developing nephrogenic structures are absent
• however, normal junctional complexes and adherens junctions are present in the epithelial cells of the ureteric bud at E13.5
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cellular
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• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
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• at E12.5, reduced cell proliferation is noted in both ureteric and metanephric mesenchyme cells
• a modest (1.7-fold) decrease in ureteric bud cell proliferation is observed
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embryo
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• at E12.5, metanephric mesenchyme cell apoptosis is increased 3.8-fold relative to that in wild-type controls
• in contrast, ureteric bud epithelial cell apoptosis is not significantly altered
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
Trpm7tm1Clph mutation
(1 available);
any
Trpm7 mutation
(98 available)
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renal/urinary system
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N |
• at P12, mice exhibit normal kidney size and histology relative to control mice, suggesting normal kidney development
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2tm1.1Aich mutation
(0 available);
any
Atp6ap2 mutation
(9 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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renal/urinary system
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• presence of occasional cysts in the medullary collecting ducts at P1
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• urine osmolalities are lower
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• baseline urine pH is normal but is higher following 48 hours of acidic loading with NH4Cl, indicating a lower ability to handle an acidic load
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• collecting ducts show increased apoptosis at E18.5
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• dilation of tubules from a proximal tubule origin at P1
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• thin kidney cortex at P1
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• small kidney size in newborns
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• kidney weight and kidney-to-body weight ratios are lower at P1 at P30
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• decrease in nephron number at P1
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• ureteric buds show increased apoptosis at E12.5
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• kidneys show aberrant terminal differentiation of the ureteric bud epithelium
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• E12.5 metanephroi show a reduction in the number of ureteric bud tips indicating a branching defect
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• 24-hour urine volumes are higher despite similar water intake
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homeostasis/metabolism
growth/size/body
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• presence of occasional cysts in the medullary collecting ducts at P1
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmbt1tm2Qaa mutation
(0 available);
any
Dmbt1 mutation
(110 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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homeostasis/metabolism
renal/urinary system
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• in the kidney cortex, beta-intercalated cells are replaced with alpha-intercalated cells unlike in wild-type mice
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hearing/vestibular/ear
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N |
• mice exhibit normal compound action potentials
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation
(0 available);
any
Fgfr1 mutation
(221 available)
Fgfr2tm1Dor mutation
(3 available);
any
Fgfr2 mutation
(88 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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renal/urinary system
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N |
• normal kidneys and no apparent renal abnormalities
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation
(0 available);
any
Fgfr1 mutation
(221 available)
Fgfr2tm1Dor mutation
(3 available);
any
Fgfr2 mutation
(88 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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renal/urinary system
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• reduced numbers of glomeruli in both embryonic and adult kidneys
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• some adult mutants had hydronephrosis occurring unilaterally or bilaterally
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• E13.5 and E16.5 kidneys were smaller than controls
• many adult mutants had small, abnormally shaped kidneys
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• E11.5 ureteric bud explants had abnormally thin, long ureteric stalks and fewer peripheral tips, with a range in phenotype severity
• decrease in the mean number of ureteric bud tips on the surface of E16.5 kidneys
• range of ureteric bud defects at E16.5, including extremely small kidneys with large areas devoid of ureteric tissue
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation
(0 available);
any
Fgfr1 mutation
(221 available)
Fgfr2tm1Dor mutation
(3 available);
any
Fgfr2 mutation
(88 available)
Tg(Hoxb7-cre)5526Cmb mutation
(0 available)
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renal/urinary system
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• 22% and 24% fewer glomeruli in E11.5 explants and adult kidneys, respectively
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• defects in cortical stromal mesenchyme patterning, showing aberrantly thickened stroma in subcapsular regions in E13.5 kidneys and regions of massive subcapsular apoptosis in stroma
• absent intercalated stripes of stromal cells in E13.5 kidneys
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• 20% of adult mutants had hydronephrosis occurring unilaterally or bilaterally
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• E13.5 and E16.5 kidneys were smaller than controls
• 80% of adult mutants had small, abnormally shaped kidneys
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• range of ureteric bud defects at E16.5, including extremely small kidneys with large areas devoid of ureteric tissue
• increased apoptotic nuclei in ureteric buds (2-3 apoptotic nuclei compared to none or just one in controls)
• decreased rates of proliferation in ureteric bud tips compared with controls
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• E11.5 ureteric bud explants exhibited aberrant branching and had abnormally thin, long ureteric stalks and fewer peripheral tips, with a range in phenotype severity
• decrease in the mean number of ureteric bud tips on the surface of E16.5 kidneys (89.5 versus 271 in control)
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Analysis Tools