All Phenotypes Atp6ap2<tm1.1Aich> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Atp6ap2^tm1.1Aich
targeted mutation 1.1, Atsuhiro Ichihara
MGI:4836029

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Atp6ap2^tm1.1Aich/Y Tg(Crx-cre)1Tfur/0	involves: C57BL/6	MGI:6357695
cn2	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Hoxb7-cre)5526Cmb/0	involves: C57BL/6	MGI:6357730
cn3	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Mx1-cre)1Cgn/0	involves: C57BL/6 * C57BL/6J * CBA/J	MGI:6357744
cn4	Atp6ap2^tm1.1Aich/Y Tg(Mx1-cre)1Cgn/0	involves: C57BL/6 * C57BL/6J * CBA/J	MGI:6357747
cn5	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6 * CD-1	MGI:6357739
cn6	Atp6ap2^tm1.1Aich/Atp6ap2⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6 * CD-1	MGI:6357740
cn7	Atp6ap2^tm1.1Aich/Y Tg(Myh6-cre)2182Mds/?	involves: C57BL/6 * FVB/N	MGI:4836055

Allelic Composition	Atp6ap2^tm1.1Aich/Y Tg(Crx-cre)1Tfur/0
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Crx-cre)1Tfur mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina morphology ( J:204145 )

• 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

abnormal retina layer morphology ( J:204145 )

• retinal lamination is disrupted with plexiform patches and sporadic rosette-like structures in the outer nuclear layer at P14

retina photoreceptor degeneration ( J:204145 )

• loss of photoreceptor cells

decreased total retina thickness ( J:204145 )

• retinal thinning is seen at E14.5 but not at E12.5

decreased a-wave amplitude ( J:204145 )

• dark-adapted ERG responses show reduced a-wave amplitudes

decreased b-wave amplitude ( J:204145 )

• dark-adapted ERG responses show reduced b-wave amplitudes

nervous system

retina photoreceptor degeneration ( J:204145 )

• loss of photoreceptor cells

Allelic Composition	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Hoxb7-cre)5526Cmb/0
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Hoxb7-cre)5526Cmb mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

kidney cyst ( J:223201 )

• presence of occasional cysts in the medullary collecting ducts at P1

decreased urine osmolality ( J:223201 )

• urine osmolalities are lower

increased urine pH ( J:223201 )

• 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

abnormal kidney collecting duct morphology ( J:223201 )

• collecting ducts show increased apoptosis at E18.5

dilated kidney collecting duct ( J:223201 )

• dilation of tubules from a proximal tubule origin at P1

abnormal kidney cortex morphology ( J:223201 )

• thin kidney cortex at P1

small kidney ( J:223201 )

• small kidney size in newborns

decreased kidney weight ( J:223201 )

• kidney weight and kidney-to-body weight ratios are lower at P1 at P30

renal hypoplasia ( J:223201 )

decreased nephron number ( J:223201 )

• decrease in nephron number at P1

abnormal ureteric bud morphology ( J:223201 )

• ureteric buds show increased apoptosis at E12.5

abnormal metanephric ureteric bud development ( J:223201 )

• kidneys show aberrant terminal differentiation of the ureteric bud epithelium

impaired branching involved in ureteric bud morphogenesis ( J:223201 )

• E12.5 metanephroi show a reduction in the number of ureteric bud tips indicating a branching defect

polyuria ( J:223201 )

• 24-hour urine volumes are higher despite similar water intake

homeostasis/metabolism

increased circulating creatinine level ( J:223201 )

• levels of serum creatinine are increased at P30

decreased urine osmolality ( J:223201 )

• urine osmolalities are lower

increased urine pH ( J:223201 )

• 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

growth/size/body

kidney cyst ( J:223201 )

• presence of occasional cysts in the medullary collecting ducts at P1

Allelic Composition	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: C57BL/6 * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

enlarged liver ( J:274386 )

• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%

abnormal hepatocyte morphology ( J:274386 )

• hepatocytes are hypertrophic in poly(I:C)-treated mice

• hepatocytes of poly(I:C)-treated mice show massive accumulation of endocytic and autophagic vacuoles

abnormal hepatocyte physiology ( J:274386 )

• 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

cellular

impaired autophagy ( J:274386 )

• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance

homeostasis/metabolism

impaired autophagy ( J:274386 )

• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance

growth/size/body

enlarged liver ( J:274386 )

• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%

Allelic Composition	Atp6ap2^tm1.1Aich/Y Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: C57BL/6 * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

enlarged liver ( J:274386 )

• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%

abnormal hepatocyte morphology ( J:274386 )

• hepatocytes are hypertrophic in poly(I:C)-treated mice

• hepatocytes of poly(I:C)-treated mice show massive accumulation of endocytic and autophagic vacuoles

abnormal hepatocyte physiology ( J:274386 )

• 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

cellular

impaired autophagy ( J:274386 )

• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance

homeostasis/metabolism

impaired autophagy ( J:274386 )

• cultured hepatocytes from poly(I:C)-treated mice show decreased autophagic clearance

growth/size/body

enlarged liver ( J:274386 )

• mice treated with polyinosinic-polycytidylic acid [poly(I:C)] for 5 days to induce cre-expression exhibit livers enlarged by 60%

Allelic Composition	Atp6ap2^tm1.1Aich/Atp6ap2^tm1.1Aich Tg(Six2-EGFP/cre)1Amc/0
Genetic Background	involves: C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Six2-EGFP/cre)1Amc mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:228872 )

• mice die within 48 hours of birth

renal/urinary system

kidney medulla cyst ( J:228872 )

• kidneys have many cysts in the cortex and outer medulla at P0

abnormal kidney cortex morphology ( J:228872 )

• thin kidney cortex at P0

kidney cortex cyst ( J:228872 )

• kidneys have many cysts in the cortex and outer medulla at P0

abnormal kidney development ( J:228872 )

• 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

abnormal metanephric mesenchyme morphology ( J:228872 )

• marker analysis shows reduced inductive and differentiation response within the metanephric mesenchyme

abnormal nephrogenic zone morphology ( J:228872 )

• kidneys lack a well-defined nephrogenic zone at P0

small kidney ( J:228872 )

• kidneys are reduced in size at E13.5 and in newborns

decreased kidney weight ( J:228872 )

• kidney weight is lower in newborns

abnormal nephron morphology ( J:228872 )

• nephron structure volume compared to total kidney volume is reduced at E12.5

podocyte foot process effacement ( J:228872 )

• in newborns

abnormal renal glomerulus morphology ( J:228872 )

• developing glomeruli volume and average size are reduced at E12.5

abnormal nephron morphogenesis ( J:228872 )

• 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

abnormal S-shaped body morphology ( J:228872 )

• the number of S-shaped bodies is reduced at E12.5

• however, renal vesicle number is not different at E12.5

abnormal comma shaped body morphology ( J:228872 )

• the number of comma-shaped bodies is reduced at E12.5

decreased nephron number ( J:228872 )

• decrease in the number of nephrons at P0

impaired branching involved in ureteric bud morphogenesis ( J:228872 )

• ureteric bud branching is reduced at E13.5

growth/size/body

kidney cortex cyst ( J:228872 )

• kidneys have many cysts in the cortex and outer medulla at P0

kidney medulla cyst ( J:228872 )

• kidneys have many cysts in the cortex and outer medulla at P0

Allelic Composition	Atp6ap2^tm1.1Aich/Atp6ap2⁺ Tg(Six2-EGFP/cre)1Amc/0
Genetic Background	involves: C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Six2-EGFP/cre)1Amc mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

albuminuria ( J:228872 )

• increase in urinary albumin excretion

glomerulosclerosis ( J:228872 )

• focal glomerulosclerosis

decreased kidney weight ( J:228872 )

• kidney weight is reduced at 2 months of age

homeostasis/metabolism

increased circulating creatinine level ( J:228872 )

albuminuria ( J:228872 )

• increase in urinary albumin excretion

Allelic Composition	Atp6ap2^tm1.1Aich/Y Tg(Myh6-cre)2182Mds/?
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2^tm1.1Aich mutation (0 available); any Atp6ap2 mutation (10 available)
Tg(Myh6-cre)2182Mds mutation (3 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:165020 )

• die within 3 weeks of birth

• born at expected ratios

cardiovascular system

abnormal heart morphology ( J:165020 )

• 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

abnormal heart weight ( J:165020 )

• heart body ratio is significantly increased starting at day 14

abnormal cardiovascular system physiology ( J:165020 )

• ventricular function severely impaired at 18 days of age

decreased heart ventricle muscle contractility ( J:165020 )

• fractional shortening in ventricles is 12.9% compared to 27.7% for controls at 18 days of age

muscle

decreased heart ventricle muscle contractility ( J:165020 )

• fractional shortening in ventricles is 12.9% compared to 27.7% for controls at 18 days of age

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