Phenotypes associated with this allele

• Allele Symbol: Ptch1^dl
• Allele Name: dogface-like
• Allele ID: MGI:5544595
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptch1^dl/Ptch1^dl	involves: 129S1/SvImJ * C57BL/6J	MGI:5544602
ht2	Ptch1^dl/Ptch1^tm1Zim	involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6J	MGI:5544605
ht3	Ptch1^dl/Ptch1^tm1Mps	involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J	MGI:5544603

Genotype
MGI:5544602

hm1

• 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

Genotype
MGI:5544605

ht2

• Allelic Composition: Ptch1^dl/Ptch1^tm1Zim
• Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6J

Kinked tail, omphalocele, and abnormal skull shape in Ptch1^dl/Ptch1^tm1Zim embryos

craniofacial

domed cranium ( J:204468 )

• domed skull with distinct angular separation from the snout at E18.5

growth/size/body

omphalocele ( J:204468 )

• small at E18.5

abnormal head morphology ( J:204468 )

• domed skull with distinct angular separation from the snout at E18.5

increased fetal size ( J:204468 )

• at E18.5

limbs/digits/tail

kinked tail ( J:204468 )

• at E18.5

skeleton

domed cranium ( J:204468 )

• domed skull with distinct angular separation from the snout at E18.5

Genotype
MGI:5544603

ht3

• Allelic Composition: Ptch1^dl/Ptch1^tm1Mps
• Genetic Background: involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J

Skeletal abnormalities in Ptch1^dl/Ptch1^tm1Mps mice

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:204468 )

• some mice are dead upon collection at E18.5

craniofacial

abnormal craniofacial morphology ( J:204468 )

• mice with normal neural closure exhibit craniofacial defects similar to in Ptch1^dl homozygotes

abnormal lambdoid suture morphology ( J:204468 )

• absent

abnormal neurocranium morphology ( J:204468 )

• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1^dl homozygotes

small basisphenoid bone ( J:204468 )

• narrow

abnormal interparietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones

abnormal parietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones

alisphenoid bone hypoplasia ( J:204468 )

absent presphenoid bone ( J:204468 )

mandibular coronoid process hypoplasia ( J:204468 )

• underdeveloped

palatal shelf hypoplasia ( J:204468 )

• underdeveloped

limbs/digits/tail

preaxial polydactyly ( J:204468 )

• in all forelimbs and the majority of hindlimbs

syndactyly ( J:204468 )

• in all forelimbs and the majority of hindlimbs

kinked tail ( J:204468 )

nervous system

exencephaly ( J:204468 )

• in several mice at E18.5

digestive/alimentary system

palatal shelf hypoplasia ( J:204468 )

• underdeveloped

skeleton

abnormal lambdoid suture morphology ( J:204468 )

• absent

abnormal neurocranium morphology ( J:204468 )

• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1^dl homozygotes

small basisphenoid bone ( J:204468 )

• narrow

abnormal interparietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones

abnormal parietal bone morphology ( J:204468 )

• fusion of the parietal and interparietal bones

alisphenoid bone hypoplasia ( J:204468 )

absent presphenoid bone ( J:204468 )

mandibular coronoid process hypoplasia ( J:204468 )

• underdeveloped

scapular bone foramen ( J:204468 )

• in 5 of 10 mice

abnormal sternum morphology ( J:204468 )

• disorganized and thicker than in control mice with more ossification

growth/size/body

palatal shelf hypoplasia ( J:204468 )

• underdeveloped