Phenotypes Associated with This Genotype

Genotype
MGI:5544603

ht3

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

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

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

alisphenoid bone hypoplasia ( J:204468 )

absent presphenoid bone ( J:204468 )

mandibular coronoid process hypoplasia ( J:204468 )

• underdeveloped

palatal shelf hypoplasia ( J:204468 )

• underdeveloped