Phenotypes Associated with This Genotype

Genotype
MGI:5315749

• Allelic Composition: Wdr19^twto/Wdr19^twto
• Genetic Background: involves: FVB/NJ

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:181888 )

• survive until close to birth

cellular

abnormal cilium morphology ( J:181888 )

• decrease in the percentage of cells with cilium in serum starved MEFs

muscle

abnormal myotome development ( J:181888 )

• major disruption to the organization of the medial and lateral myotome

abnormal dermomyotome development ( J:181888 )

• major disruption to the organization of the medial and lateral dermomyotome

skeleton

abnormal cranium morphology ( J:181888 )

• loss or truncation of several major bones of the skull

absent frontal bone ( J:181888 )

• appears to be absent

interparietal bone hypoplasia ( J:181888 )

• intraparietal bones are severely hypoplastic

absent supraoccipital bone ( J:181888 )

• appears to be absent

parietal bone hypoplasia ( J:181888 )

• severe

abnormal mandibular angle morphology ( J:181888 )

• mandible rests at a wider angle resulting in an open bite in embryos

short mandible ( J:181888 )

• truncated

abnormal maxilla morphology ( J:181888 )

• misshapen and truncated

abnormal premaxilla morphology ( J:181888 )

• misshapen and truncated

short premaxilla ( J:181888 )

short maxilla ( J:181888 )

• truncated

abnormal palatine bone morphology ( J:181888 )

• reduced

decreased palatine bone horizontal plate size ( J:181888 )

polyphalangy ( J:181888 )

• digit 1 is triphalangeal rather than biphalangeal

absent tibia ( J:181888 )

• tibial agenesis is consistently seen

split sternum ( J:181888 )

• partially split

abnormal rib morphology ( J:181888 )

• marked branching

rib bifurcation ( J:181888 )

• marked

rib fusion ( J:181888 )

• marked

short ribs ( J:181888 )

abnormal spine curvature ( J:181888 )

• lack of curvature

abnormal vertebrae morphology ( J:181888 )

• disordered arrangements

abnormal sternum ossification ( J:181888 )

• ossification centers are misaligned

vision/eye

anophthalmia ( J:181888 )

• in most embryos

embryo

abnormal limb mesenchyme morphology ( J:181888 )

• fewer ciliated mesenchymal cells in the limbs at E10.5

• decrease is more marked on the mesenchyme than in the epithelium

abnormal somite development ( J:181888 )

• bifurcation and incomplete separation of adjacent somite segments at E10.5 and E11.5

limbs/digits/tail

polyphalangy ( J:181888 )

• digit 1 is triphalangeal rather than biphalangeal

ectopic digits ( J:181888 )

• an ectopic digit is often seen anterior to digit 1

• ectopic digit tips generated by branching at the joints are sometimes present

polydactyly ( J:181888 )

• fore and hindlimb polydactyly

• an ectopic digit is often seen anterior to digit 1

• ectopic digit tips generated by branching at the joints are sometimes present

absent tibia ( J:181888 )

• tibial agenesis is consistently seen

abnormal limb development ( J:181888 )

abnormal limb mesenchyme morphology ( J:181888 )

• fewer ciliated mesenchymal cells in the limbs at E10.5

• decrease is more marked on the mesenchyme than in the epithelium

abnormal limb paddle morphology ( J:181888 )

• wider limb paddle at E10.5

nervous system

exencephaly ( J:181888 )

• almost completely penetrant at E17.5-E18.5

craniofacial

abnormal cranium morphology ( J:181888 )

• loss or truncation of several major bones of the skull

absent frontal bone ( J:181888 )

• appears to be absent

interparietal bone hypoplasia ( J:181888 )

• intraparietal bones are severely hypoplastic

absent supraoccipital bone ( J:181888 )

• appears to be absent

parietal bone hypoplasia ( J:181888 )

• severe

abnormal mandibular angle morphology ( J:181888 )

• mandible rests at a wider angle resulting in an open bite in embryos

short mandible ( J:181888 )

• truncated

abnormal maxilla morphology ( J:181888 )

• misshapen and truncated

abnormal premaxilla morphology ( J:181888 )

• misshapen and truncated

short premaxilla ( J:181888 )

short maxilla ( J:181888 )

• truncated

abnormal palatine bone morphology ( J:181888 )

• reduced

decreased palatine bone horizontal plate size ( J:181888 )

abnormal craniofacial development ( J:181888 )

• failure in the medial and lateral nasal processes to meet and fuse with each other and with the maxilla at E11.5, E12.5, and E15.5

abnormal palatal shelf fusion at midline ( J:181888 )

• in some cases the shelves meet but fail to fuse at E15.5

short face ( J:181888 )

• overall truncation of the upper face

bilateral cleft upper lip ( J:181888 )

• severe bilateral cleft lip

cleft palate ( J:181888 )

cleft secondary palate ( J:181888 )

• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:181888 )

• malformed

digestive/alimentary system

decreased palatine bone horizontal plate size ( J:181888 )

abnormal palatal shelf fusion at midline ( J:181888 )

• in some cases the shelves meet but fail to fuse at E15.5

cleft palate ( J:181888 )

cleft secondary palate ( J:181888 )

• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue

growth/size/body

decreased palatine bone horizontal plate size ( J:181888 )

abnormal palatal shelf fusion at midline ( J:181888 )

• in some cases the shelves meet but fail to fuse at E15.5

short face ( J:181888 )

• overall truncation of the upper face

bilateral cleft upper lip ( J:181888 )

• severe bilateral cleft lip

cleft palate ( J:181888 )

cleft secondary palate ( J:181888 )

• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ciliopathy		DOID:0060340		J:181888