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Phenotypes Associated with This Genotype
Genotype
MGI:3811608
Allelic
Composition
Pkd1tm3Jzh/Pkd1tm3Jzh
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
Pkd1tm3Jzh mutation (0 available); any Pkd1 mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• synchondrosal chondrocytes have reduced proliferative activity

craniofacial
• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure
• 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
• adult mice show a mild longitudinal growth defect of the frontal bone
• the sphenoid bones are much smaller
• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone
• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)
• adult mice show a mild longitudinal growth defect of the mandible
• adult pre-maxillary bones are severely reduced in length
• the growth of the upper jaw is profoundly retarded
• adult maxillary bones are severely reduced in length
• mineralization of the caudal nasal bone is markedly reduced
• adult nasal bones are severely reduced in length
• dome-shaped skull vault noticeable by three weeks after birth
• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

skeleton
• synchondrosal chondrocytes have reduced proliferative activity
• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure
• 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
• adult mice show a mild longitudinal growth defect of the frontal bone
• the sphenoid bones are much smaller
• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone
• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)
• adult mice show a mild longitudinal growth defect of the mandible
• adult pre-maxillary bones are severely reduced in length
• the growth of the upper jaw is profoundly retarded
• adult maxillary bones are severely reduced in length
• mineralization of the caudal nasal bone is markedly reduced
• adult nasal bones are severely reduced in length
• dome-shaped skull vault noticeable by three weeks after birth
• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure
• there is a delay in the intramembranous ossification of the facial and calvarial bones noted at 5 days after birth

growth/size/body
• adult mice show a mild longitudinal growth defect of the frontal bone
• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone
• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)
• adult mice show a mild longitudinal growth defect of the mandible
• adult pre-maxillary bones are severely reduced in length
• the growth of the upper jaw is profoundly retarded
• adult maxillary bones are severely reduced in length
• mineralization of the caudal nasal bone is markedly reduced
• adult nasal bones are severely reduced in length
• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

respiratory system
• mineralization of the caudal nasal bone is markedly reduced
• adult nasal bones are severely reduced in length


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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last database update
01/06/2026
MGI 6.24
The Jackson Laboratory