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Allele Symbol Allele Name Allele ID |
Cys1cpk congenital polycystic kidneys MGI:1856831 |
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| Summary |
12 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die by 20-23 days of age
(J:6718)
• die around 19 days of age
(J:31533)
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• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous
(J:6718)
• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life
(J:9290)
• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts
(J:9290)
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• bilateral polycystic kidneys become apparent by 8 - 9 days of age
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• at 23 days of age, kidneys occupy almost the entire abdominal cavity
(J:6718)
• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice
(J:6718)
• increase in kidney size is the result of both increased cystic fluid and increased cell mass
(J:9290)
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• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age
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• urine is colorless in grossly affected mice
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• large cysts distort the corticomedullary junction
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• mean BUN was 120mg% compared to 0.2mg% in wild-type mice
(J:6718)
• progressive azotemia seen starting at 1 week of age
(J:9290)
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• urine is colorless in grossly affected mice
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• large cysts occupy the entire kidney, distort the corticomedullary junction, involve collecting ducts and other portions of the kidney, and are lined with flattened epithelium the is frequently squamous
(J:6718)
• initially presents as dilation of the proximal tubule in fetal and newborn mice, then shifts to dilation of the cortical and medullary collecting ducts after the first week of life
(J:9290)
• epithelial hyperplasia but not polypoid hyperplasia is seen in the cysts
(J:9290)
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• bilateral polycystic kidneys become apparent by 8 - 9 days of age
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• seen at 10-13 days of age
(J:6718)
• apparent by 8 - 9 days of age
(J:31533)
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• at 23 days of age, kidneys occupy almost the entire abdominal cavity
(J:6718)
• at 17-24 days of age, average kidneys size was 16 mm x 11 mm compared to 6 mm x 3 mm in wild-type mice
(J:6718)
• increase in kidney size is the result of both increased cystic fluid and increased cell mass
(J:9290)
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• kidney weight is increased in newborns and a progressive increase in kidney wet and dry weight as well as size is seen with age
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• seen at 2 - 3 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:6718 , J:9290 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most die by 4 weeks of age with a few rare survivors reaching 5 weeks of age
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• cysts are grossly visible on cut surfaces of kidneys at 3 weeks of age with mild cystic changes already visible at E17
• progressive dilation of the proximal convoluted tubules and collecting ducts associated with intracellular vacuoles in proximal convoluted tubule cells
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• at 3 weeks of age the kidney occupies almost the entire abdominal cavity and constitutes about 25% of body weight
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• at around 4 weeks of age urine becomes colorless
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• at around 4 weeks of age urine becomes colorless
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• cysts are grossly visible on cut surfaces of kidneys at 3 weeks of age with mild cystic changes already visible at E17
• progressive dilation of the proximal convoluted tubules and collecting ducts associated with intracellular vacuoles in proximal convoluted tubule cells
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• seen at 3 weeks of age
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• at 3 weeks of age the kidney occupies almost the entire abdominal cavity and constitutes about 25% of body weight
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:7202 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• after birth cysts shift to the collecting ducts and cysts are lined with a single layer of epithelial cells with polygonal principal-like cell appearance
• EGF treatment reduces the severity of kidney cysts
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• newborns have cysts in the inner cortical proximal tubules
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• rapid kidney enlargement after birth associated with development of cysts in the collecting ducts
• EGF treatment reduced kidney size but did not improve kidney function
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• significant by 10 days of age
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• dilation of the pancreatic ducts present in newborns
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• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis
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• common bile duct dilation
• EGF treatment reduces bile duct dilation
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• almost no islets of Langerhans seen
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• periductal fibrosis
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• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis
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• common bile duct dilation
• EGF treatment reduces bile duct dilation
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• peridcuctal fibrosis associated with intrahepatic biliary duct cysts
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• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis
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• after birth cysts shift to the collecting ducts and cysts are lined with a single layer of epithelial cells with polygonal principal-like cell appearance
• EGF treatment reduces the severity of kidney cysts
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• newborns have cysts in the inner cortical proximal tubules
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• seen at 5 and 15 days of age
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• rapid kidney enlargement after birth associated with development of cysts in the collecting ducts
• EGF treatment reduced kidney size but did not improve kidney function
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• dilation of the pancreatic ducts present in newborns
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:99616 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• multiple cysts of varying size that obscure the demarcation between the cortex and medulla
• cysts become larger with age and are initially found in the proximal tubules
epithelial intercellular spaces are often focally ballooned
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• kidneys are grossly enlarged
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• kidney wet weight is increased to 1.96g - 2.12g compared to 0.16g - 0.19g in wild-type mice
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• mean creatinine is 0.66mg% compared to 0.23mg% in wild-type mice
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• mean BUN is 143mg% compared to 21mg% in wild-type mice
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• poorly-formed acini are connected to enlarged, dilated ducts
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• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini
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• poorly-formed acini are connected to enlarged, dilated ducts
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• bile ductules are somewhat enlarged
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• few if any well-formed islets are found
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• normal architecture is replaced by sheets of fibrous tissue
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• bile ductules are somewhat enlarged
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• some portal areas have increased fibrous tissue
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• feed poorly during the first few hours of life and generally fail to thrive
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• poorly-formed acini are connected to enlarged, dilated ducts
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• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini
|
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• poorly-formed acini are connected to enlarged, dilated ducts
|
|
• multiple cysts of varying size that obscure the demarcation between the cortex and medulla
• cysts become larger with age and are initially found in the proximal tubules
epithelial intercellular spaces are often focally ballooned
|
|
• kidneys are grossly enlarged
|
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• kidney wet weight is increased to 1.96g - 2.12g compared to 0.16g - 0.19g in wild-type mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:99620 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• uremic mortality is seen in less than 10% of homozygotes at 14-20 days of age
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• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
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• seen at 4 days of age
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• azotemia seen at 12 days of age
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• all common bile ducts have cysts
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• all pancreatic ducts have cysts
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• all common bile ducts have cysts
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• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation
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• all common bile ducts have cysts
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• all pancreatic ducts have cysts
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• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
|
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• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation
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• seen at 4 days of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:33739 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the perilymphatic side of Reissner's membrane is transparent but the endolymphatic side is normal
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• the organ of Corti is absent from the first cochlear turn but present in the second cochlear turn
• in the second cochlear turn the inner and outer hair cells are normal but debris is seen in Nuel's space and the outer pillar cells
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• in the upper portion of the first turn of the cochlea outer hair cells are absent
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• in the upper portion of the first turn of the cochlea, vesicle formation is seen in the inner hair cells
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• some inner pillar cells show a cystic formation at the base of the cell
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• hearing is impaired with auditory evoked potential indicating some hearing loss at 90 db
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• in the upper portion of the first turn of the cochlea outer hair cells are absent
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• in the upper portion of the first turn of the cochlea, vesicle formation is seen in the inner hair cells
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• few spiral ganglia are seen in the first cochlear turn
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• massive hepatic biliary ductal cysts are seen in 1 year old heterozygotes
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• associated with liver cysts
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• massive hepatic biliary ductal cysts are seen in 1 year old heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• proximal tubular cysts seen in 1 year old heterozygotes
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• heptatic cysts lined with biliary epithelium are seen in 1 year old heterozygotes
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• seen in 1 year old heterozygotes, associated with hepatic cysts
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• proximal tubular cysts seen in 1 year old heterozygotes
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• heptatic cysts lined with biliary epithelium are seen in 1 year old heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
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• mice develop more cortical cysts than in Cys1cpk homozygotes
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• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
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• mice develop more cortical cysts than in Cys1cpk homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
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• mice develop more cortical cysts than in Cys1cpk homozygotes
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• mice exhibit an increase in kidney weight and kidney weight to body weight ratio compared to in Lgals3tm1Poi homozygotes
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• mice develop medullary and cortical cysts
• however, gross ciliary structure is normal
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• mice develop more cortical cysts than in Cys1cpk homozygotes
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• mice exhibit an increase in kidney weight and kidney weight to body weight ratio compared to in Lgals3tm1Poi homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice develop kidney cysts at the same frequency as in Cys1cpk homozygotes but cysts are larger in size
• mice exhibit an increase in the number of advanced stage cysts compared to in Cys1cpk homozygotes
• cysts are primarily restricted to the collecting ducts with few proximal tubule cysts
• proliferation and apoptosis of cystic kidneys is increased compared to in Cys1cpk homozygotes
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• P10, kidneys are larger than in Cys1cpk homozygotes
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• at P3 and P10, kidney weight to body weight ratio is larger than in Cys1cpk homozygotes
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• compared to in Cys1cpk homozygotes at P10
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• mice develop kidney cysts at the same frequency as in Cys1cpk homozygotes but cysts are larger in size
• mice exhibit an increase in the number of advanced stage cysts compared to in Cys1cpk homozygotes
• cysts are primarily restricted to the collecting ducts with few proximal tubule cysts
• proliferation and apoptosis of cystic kidneys is increased compared to in Cys1cpk homozygotes
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• P10, kidneys are larger than in Cys1cpk homozygotes
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• at P3 and P10, kidney weight to body weight ratio is larger than in Cys1cpk homozygotes
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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