Phenotypes Associated with This Genotype

Genotype
MGI:5544602

• Allelic Composition: Ptch1^dl/Ptch1^dl
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

Abnormal flexure at skull and nasal juncture and forelimb preaxial polydactyly in E18.5 Ptch1^dl/Ptch1^dl mutants

mortality/aging

postnatal lethality, complete penetrance ( J:204468 )

• mice do not survive to weaning

craniofacial

abnormal cranium morphology ( J:204468 )

• rounded skull with an abnormal angle between the cranium and the snout

• skulls exhibit large areas lacking skeletal components in regions where the bones of the skull vault normally juxtapose, particularly near the midline

abnormal lambdoid suture morphology ( J:204468 )

abnormal basicranium morphology ( J:204468 )

abnormal basisphenoid bone morphology ( J:204468 )

small basisphenoid bone ( J:204468 )

• narrow along the rostral caudal axis

abnormal frontal bone morphology ( J:204468 )

• abnormally wide distance between the two frontal bones

abnormal interparietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull

abnormal parietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull

alisphenoid bone hypoplasia ( J:204468 )

absent presphenoid bone ( J:204468 )

short mandibular coronoid process ( J:204468 )

• fails to extend caudally

domed cranium ( J:204468 )

palatal shelf hypoplasia ( J:204468 )

• underdeveloped

absent palatal shelf ( J:204468 )

• in some mice

cleft secondary palate ( J:204468 )

• in some mice

limbs/digits/tail

preaxial polydactyly ( J:204468 )

• 6 digits in the hindlimbs and variable (6 or 7) digits on forelimbs

growth/size/body

abnormal head morphology ( J:204468 )

• rounded skull with an abnormal angle between the cranium and the snout

palatal shelf hypoplasia ( J:204468 )

• underdeveloped

absent palatal shelf ( J:204468 )

• in some mice

cleft secondary palate ( J:204468 )

• in some mice

increased body size ( J:204468 )

digestive/alimentary system

palatal shelf hypoplasia ( J:204468 )

• underdeveloped

absent palatal shelf ( J:204468 )

• in some mice

cleft secondary palate ( J:204468 )

• in some mice

skeleton

abnormal cranium morphology ( J:204468 )

• rounded skull with an abnormal angle between the cranium and the snout

• skulls exhibit large areas lacking skeletal components in regions where the bones of the skull vault normally juxtapose, particularly near the midline

abnormal lambdoid suture morphology ( J:204468 )

abnormal basicranium morphology ( J:204468 )

abnormal basisphenoid bone morphology ( J:204468 )

small basisphenoid bone ( J:204468 )

• narrow along the rostral caudal axis

abnormal frontal bone morphology ( J:204468 )

• abnormally wide distance between the two frontal bones

abnormal interparietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull

abnormal parietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull

alisphenoid bone hypoplasia ( J:204468 )

absent presphenoid bone ( J:204468 )

short mandibular coronoid process ( J:204468 )

• fails to extend caudally

domed cranium ( J:204468 )

scapular bone foramen ( J:204468 )

• a large central foramen

abnormal sternum morphology ( J:204468 )

• disorganized with irregular ossification and asymmetric ribs

asymmetric sternocostal joints ( J:204468 )

abnormal sternum manubrium morphology ( J:204468 )

• thicker and/or irregular

abnormal xiphoid process morphology ( J:204468 )

• thicker and/or irregular

abnormal intramembranous bone ossification ( J:204468 )

• of frontal, parietal and interparietal bones near the midline

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:204468