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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptk7chz
chuzhoi
MGI:3640803
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptk7chz/Ptk7chz involves: BALB/cAnN * C3H/HeH MGI:4830324
cx2
Celsr1Crsh/Celsr1+
Ptk7chz/Ptk7+
involves: 101/H * BALB/c * BALB/cAnN * C3H/HeH MGI:4830334
cx3
Ptk7chz/Ptk7+
Vangl2Lp/Vangl2+
involves: A * BALB/cAnN * C3H/HeH MGI:4830332


Genotype
MGI:4830324
hm1
Allelic
Composition
Ptk7chz/Ptk7chz
Genetic
Background
involves: BALB/cAnN * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptk7chz mutation (2 available); any Ptk7 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ptk7chz/Ptk7chz mice exhibit multiple developmental abnormalities

embryo
• defects in the process of convergent extension
• defects in neural crest cell distribution
• the neural tube is open from the midbrain/hindbrain boundary throughout the spinal cord

nervous system
• defects in neural crest cell distribution
• the neural tube is open from the midbrain/hindbrain boundary throughout the spinal cord
• disruption of the arrangement of the stereociliary bundles on the third row of outer hair cells, a broadened region of OHC with four apparent rows of cells, plus additional cells external to the row of inner hair cells
• apparent fusion of the ninth and tenth cranial ganglia
• trigeminal ganglion appear enlarged and misshapen
• apparent fusion of the ninth and tenth cranial ganglia
• a shortening and skewing of the spinal cord

growth/size/body

vision/eye
• 52% of fetuses at E16.5 have a failure of eyelid closure

skeleton
• splayed vertebrae

limbs/digits/tail

hearing/vestibular/ear
• disruption of the arrangement of the stereociliary bundles on the third row of outer hair cells, a broadened region of OHC with four apparent rows of cells, plus additional cells external to the row of inner hair cells

respiratory system
• thickened interstitial mesenchyme with infrequent septation
• at E18.5, the lung lobes are highly misshapen
• at E18.5, the lung lobes are reduced in size

cardiovascular system
• connections between the ventricles and the great arteries are concordant, although the vessels are parallel rather than spiraling round one another
• a defect of double outlet right ventricle is observed, whereby both the aorta and the pulmonary trunk exit from the right ventricle




Genotype
MGI:4830334
cx2
Allelic
Composition
Celsr1Crsh/Celsr1+
Ptk7chz/Ptk7+
Genetic
Background
involves: 101/H * BALB/c * BALB/cAnN * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1Crsh mutation (2 available); any Celsr1 mutation (146 available)
Ptk7chz mutation (2 available); any Ptk7 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• 6% display spina bifida

nervous system
• 6% display spina bifida




Genotype
MGI:4830332
cx3
Allelic
Composition
Ptk7chz/Ptk7+
Vangl2Lp/Vangl2+
Genetic
Background
involves: A * BALB/cAnN * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptk7chz mutation (2 available); any Ptk7 mutation (60 available)
Vangl2Lp mutation (2 available); any Vangl2 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• 23% exhibit spina bifida or craniorachischisis
• 23% exhibit spina bifida or craniorachischisis

nervous system
• 23% exhibit spina bifida or craniorachischisis
• 23% exhibit spina bifida or craniorachischisis





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
11/12/2024
MGI 6.24
The Jackson Laboratory