Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm3Jzh
• Allele Name: targeted mutation 3, Jing Zhou
• Allele ID: MGI:3811233
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pkd1^tm3Jzh/Pkd1^tm3Jzh	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:3811609
cn2	Pkd1^tm3Jzh/Pkd1^tm3Jzh Tg(Col2a1-cre)10Amc/0	involves: 129P2/OlaHsd	MGI:5438955
cn3	Pkd1^tm3Jzh/Pkd1^tm3Jzh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3811608
cn4	Pkd1^tm3Jzh/Pkd1^tm3Jzh Tg(Ggt1-cre)M3Egn/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3811282
cn5	Pkd1^tm3Jzh/Pkd1^tm3Jzh Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/?	involves: 129P2/OlaHsd * CD-1	MGI:3811610

Genotype
MGI:3811609

cn1

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ

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

cellular

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

craniofacial

abnormal basicranium morphology ( J:139970 )

• the cellularity and the overall thickness of the skull base is reduced during embryonic development

• at E13.5, the skull base area underlying the newly formed pituitary gland is populated by undifferentiated mesenchymal cells whereas in controls the area is already occupied by fully differentiated chondrocytes

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis

abnormal sphenooccipital synchondrosis ( J:139970 )

• the mesenchymal cells residing in the presumptive sphenooccipital synchondrosis area (SOS) show decreased proliferation

premature sphenooccipital synchondrosis closure ( J:139970 )

• an ossified bridge within the central area of the SOS exists in 5 day old mice

• closure across SOS is progressive with age and a complete fusion occurs in all adult mutant mice

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

• early postnatal obliteration of the presphenoid synchondrosis and sphenooccipital synchondrosis results in the shortening of the sphenoid bones

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis mice results in the shortening of the presphenoid bone

domed cranium ( J:139970 )

• noticeable by three weeks after birth

growth/size/body

slow postnatal weight gain ( J:139970 )

• pups have slow weight gain

polycystic kidney ( J:139970 )

• multiple cysts are found in the kidney

renal/urinary system

polycystic kidney ( J:139970 )

• multiple cysts are found in the kidney

skeleton

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

abnormal basicranium morphology ( J:139970 )

• the cellularity and the overall thickness of the skull base is reduced during embryonic development

• at E13.5, the skull base area underlying the newly formed pituitary gland is populated by undifferentiated mesenchymal cells whereas in controls the area is already occupied by fully differentiated chondrocytes

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis

abnormal sphenooccipital synchondrosis ( J:139970 )

• the mesenchymal cells residing in the presumptive sphenooccipital synchondrosis area (SOS) show decreased proliferation

premature sphenooccipital synchondrosis closure ( J:139970 )

• an ossified bridge within the central area of the SOS exists in 5 day old mice

• closure across SOS is progressive with age and a complete fusion occurs in all adult mutant mice

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

• early postnatal obliteration of the presphenoid synchondrosis and sphenooccipital synchondrosis results in the shortening of the sphenoid bones

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis mice results in the shortening of the presphenoid bone

domed cranium ( J:139970 )

• noticeable by three weeks after birth

delayed bone ossification ( J:139970 )

• delayed ossification of the cranial, axial and appendicular skeleton is observed at birth

Genotype
MGI:5438955

cn2

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129P2/OlaHsd

mortality/aging

postnatal lethality, complete penetrance ( J:140779 )

• all mice die 12 to 14 days after birth

skeleton

premature cranial synchondrosis closure ( J:140779 )

• mice exhibit premature closure of the cranial base synchondroses

abnormal compact bone morphology ( J:140779 )

• mice exhibit a mild reduction in cortical bone deposition

delayed intramembranous bone ossification ( J:140779 )

• mice exhibit delayed intramembranous bone deposition

craniofacial

premature cranial synchondrosis closure ( J:140779 )

• mice exhibit premature closure of the cranial base synchondroses

renal/urinary system

polycystic kidney ( J:140779 )

• mice develop a severe form of early postnatal polycystic kidney disease

growth/size/body

polycystic kidney ( J:140779 )

• mice develop a severe form of early postnatal polycystic kidney disease

Genotype
MGI:3811608

cn3

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

cellular

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

craniofacial

abnormal craniofacial bone morphology ( J:139970 )

abnormal presphenoid synchondrosis ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the sphenoid and presphenoid bones

• in contrast, the sphenooccipital synchondrosis remains patent, as in wild-type littermates

short frontal bone ( J:139970 )

• adult mice show a mild longitudinal growth defect of the frontal bone

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

short mandible ( J:139970 )

• adult mice show a mild longitudinal growth defect of the mandible

short premaxilla ( J:139970 )

• adult pre-maxillary bones are severely reduced in length

maxilla hypoplasia ( J:139970 )

• the growth of the upper jaw is profoundly retarded

short maxilla ( J:139970 )

• adult maxillary bones are severely reduced in length

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

domed cranium ( J:139970 )

• dome-shaped skull vault noticeable by three weeks after birth

short snout ( J:139970 )

• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

skeleton

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

abnormal craniofacial bone morphology ( J:139970 )

abnormal presphenoid synchondrosis ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the sphenoid and presphenoid bones

• in contrast, the sphenooccipital synchondrosis remains patent, as in wild-type littermates

short frontal bone ( J:139970 )

• adult mice show a mild longitudinal growth defect of the frontal bone

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

short mandible ( J:139970 )

• adult mice show a mild longitudinal growth defect of the mandible

short premaxilla ( J:139970 )

• adult pre-maxillary bones are severely reduced in length

maxilla hypoplasia ( J:139970 )

• the growth of the upper jaw is profoundly retarded

short maxilla ( J:139970 )

• adult maxillary bones are severely reduced in length

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

domed cranium ( J:139970 )

• dome-shaped skull vault noticeable by three weeks after birth

abnormal perichondrium morphology ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

delayed intramembranous bone ossification ( J:139970 )

• there is a delay in the intramembranous ossification of the facial and calvarial bones noted at 5 days after birth

growth/size/body

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

short snout ( J:139970 )

• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

respiratory system

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

Genotype
MGI:3811282

cn4

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; Tg(Ggt1-cre)M3Egn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

premature death ( J:140012 )

• most mice die by one month of age from renal failure

renal/urinary system

increased renal tubule apoptosis ( J:140012 )

• increased apoptosis is observed in both cysts and normal looking epithelial tubules of 2 day old mice

polycystic kidney ( J:140012 )

• cystic kidneys are first detectable at 10 days of age

• the disease is progressive with cysts dominating the kidney architecture by 26 days of age

• however, glomerular cysts are not observed

• cysts of proximal and distal origin develop at different rates with distal cysts progressively increasing in size until death

• proximal cysts stop growing at 15 days of age and start to regress or completely disappear before death

cellular

increased renal tubule apoptosis ( J:140012 )

• increased apoptosis is observed in both cysts and normal looking epithelial tubules of 2 day old mice

growth/size/body

polycystic kidney ( J:140012 )

• cystic kidneys are first detectable at 10 days of age

• the disease is progressive with cysts dominating the kidney architecture by 26 days of age

• however, glomerular cysts are not observed

• cysts of proximal and distal origin develop at different rates with distal cysts progressively increasing in size until death

• proximal cysts stop growing at 15 days of age and start to regress or completely disappear before death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:140012

Genotype
MGI:3811610

cn5

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/?
• Genetic Background: involves: 129P2/OlaHsd * CD-1

skeleton

delayed intramembranous bone ossification ( J:139970 )

• mice display a delay in intramembranous ossification

• however, no growth defects of the craniofacial bones are found