Phenotypes associated with this allele
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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(Crx-cre)1Tfur mutation
(1 available)
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vision/eye
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• cellular defects are seen in the retina at E14.5
• marker analysis indicates that retinal progenitor distribution is disturbed in photoreceptor cells and cell adhesion and polarity molecules are mislocalized in photoreceptors, however cell fate determination of photoreceptors is not affected
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• retinal lamination is disrupted with plexiform patches and sporadic rosette-like structures in the outer nuclear layer at P14
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• loss of photoreceptor cells
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• retinal thinning is seen at E14.5 but not at E12.5
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• dark-adapted ERG responses show reduced a-wave amplitudes
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• dark-adapted ERG responses show reduced b-wave amplitudes
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nervous system
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• loss of photoreceptor cells
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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:
Atp6ap2tm1.1Aich mutation
(0 available);
any
Atp6ap2 mutation
(9 available)
Tg(Mx1-cre)1Cgn mutation
(7 available)
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liver/biliary system
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• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%
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• hepatocytes are hypertrophic in poly(I:C)-treated mice
• hepatocytes of poly(I:C)-treated mice show massive accumulation of endocytic and autophagic vacuoles
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• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance
• however, hepatocytes show normal acidification and delivery of endocytic cargo to lysosomes and autolysosomes
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cellular
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• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance
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homeostasis/metabolism
growth/size/body
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• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%
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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(Mx1-cre)1Cgn mutation
(7 available)
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liver/biliary system
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• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%
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• hepatocytes are hypertrophic in poly(I:C)-treated mice
• hepatocytes of poly(I:C)-treated mice show massive accumulation of endocytic and autophagic vacuoles
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• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance
• however, hepatocytes show normal acidification and delivery of endocytic cargo to lysosomes and autolysosomes
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cellular
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• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance
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homeostasis/metabolism
growth/size/body
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• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%
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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(Six2-EGFP/cre)1Amc mutation
(1 available)
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mortality/aging
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• mice die within 48 hours of birth
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renal/urinary system
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• kidneys have many cysts in the cortex and outer medulla at P0
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• thin kidney cortex at P0
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• kidneys have many cysts in the cortex and outer medulla at P0
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• decreased nephrogenesis, with premature depletion of the progenitor cell population within the cap mesenchyme
• the cap mesenchyme shows fewer proliferating cells, however apoptosis is no different from controls
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• marker analysis shows reduced inductive and differentiation response within the metanephric mesenchyme
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• kidneys lack a well-defined nephrogenic zone at P0
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• kidneys are reduced in size at E13.5 and in newborns
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• kidney weight is lower in newborns
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• nephron structure volume compared to total kidney volume is reduced at E12.5
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• developing glomeruli volume and average size are reduced at E12.5
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• nascent nephrons reach the renal vesicle stage but do not develop beyond
• kidneys show less developed epithelial structures at E13.5, with embryos having few vesicles and comma-shaped nephron structures
• all stages of nephron development are reduced at P0 and marker analysis shows that nephron induction and specification of proximal nephron segments are impaired at birth
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• the number of S-shaped bodies is reduced at E12.5
• however, renal vesicle number is not different at E12.5
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• the number of comma-shaped bodies is reduced at E12.5
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• decrease in the number of nephrons at P0
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• ureteric bud branching is reduced at E13.5
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growth/size/body
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• kidneys have many cysts in the cortex and outer medulla at P0
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• kidneys have many cysts in the cortex and outer medulla at P0
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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(Six2-EGFP/cre)1Amc mutation
(1 available)
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renal/urinary system
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• increase in urinary albumin excretion
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• focal glomerulosclerosis
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• kidney weight is reduced at 2 months of age
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homeostasis/metabolism
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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(Myh6-cre)2182Mds mutation
(3 available)
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mortality/aging
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• die within 3 weeks of birth
• born at expected ratios
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cardiovascular system
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• clusters of degenerating cardiomyocytes with extensive vacuolation in areas of replacement fibrosis
• myofibrils and mitochondria exclusively at the cell periphery of cardiomyocytes
• no gross cardiac anomalies at birth
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• heart body ratio is significantly increased starting at day 14
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• ventricular function severely impaired at 18 days of age
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• fractional shortening in ventricles is 12.9% compared to 27.7% for controls at 18 days of age
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muscle
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• fractional shortening in ventricles is 12.9% compared to 27.7% for controls at 18 days of age
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Analysis Tools