About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory