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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tulp3m1Kflj
mutation 1, Karel F Liem Jr
MGI:6392262
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tulp3m1Kflj/Tulp3m1Kflj involves: C57BL/6J * FVB/NJ MGI:6392266
ht2
 		Tulp3m1Kflj/Tulp3tm1b(EUCOMM)Hmgu involves: C57BL/6 * C57BL/6J * C57BL/6N * FVB/NJ MGI:6392264


Genotype
MGI:6392266
hm1
Allelic
Composition		 Tulp3m1Kflj/Tulp3m1Kflj
Genetic
Background		 involves: C57BL/6J * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tulp3m1Kflj mutation (0 available); any Tulp3 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, incomplete penetrance ( J:284006 )
• variable perinatal lethality
postnatal lethality ( J:284006 )
• mice survive up to weaning age

craniofacial
cleft palate ( J:284006 )
• cleft palate, incomplete penetrance

homeostasis/metabolism

renal/urinary system
increased kidney cell proliferation ( J:284006 )
• an increase in cell proliferation is seen in the proximal tubules at the time of cyst formation
polycystic kidney ( J:284006 )
• renal cysts are apparent in kidneys at E18.5 but not at E15.5
• renal cysts first form in the proximal tubules
enlarged kidney ( J:284006 )
• kidneys are grossly enlarged at P14 due to cysts
• however, kidney cells exhibit normal cilia morphology at P0

skeleton
abnormal skeleton morphology ( J:284006 )
• incomplete penetrance of skeletal abnormalities
increased rib number ( J:284006 )
• rib duplications, incomplete penetrance

cellular
increased kidney cell proliferation ( J:284006 )
• an increase in cell proliferation is seen in the proximal tubules at the time of cyst formation

growth/size/body
cleft palate ( J:284006 )
• cleft palate, incomplete penetrance
polycystic kidney ( J:284006 )
• renal cysts are apparent in kidneys at E18.5 but not at E15.5
• renal cysts first form in the proximal tubules
enlarged kidney ( J:284006 )
• kidneys are grossly enlarged at P14 due to cysts
• however, kidney cells exhibit normal cilia morphology at P0

digestive/alimentary system
cleft palate ( J:284006 )
• cleft palate, incomplete penetrance

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
polycystic kidney disease DOID:0080322 OMIM:PS173900
 J:284006




Genotype
MGI:6392264
ht2
Allelic
Composition		 Tulp3m1Kflj/Tulp3tm1b(EUCOMM)Hmgu
Genetic
Background		 involves: C57BL/6 * C57BL/6J * C57BL/6N * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tulp3m1Kflj mutation (0 available); any Tulp3 mutation (54 available)
Tulp3tm1b(EUCOMM)Hmgu mutation (0 available); any Tulp3 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
kidney cyst ( J:284006 )
• kidney cysts are seen at E18.5

growth/size/body
kidney cyst ( J:284006 )
• kidney cysts are seen at E18.5




Contributing Projects:
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory