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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptch1dl
dogface-like
MGI:5544595
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptch1dl/Ptch1dl involves: 129S1/SvImJ * C57BL/6J MGI:5544602
ht2
Ptch1dl/Ptch1tm1Zim involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6J MGI:5544605
ht3
Ptch1dl/Ptch1tm1Mps involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J MGI:5544603


Genotype
MGI:5544602
hm1
Allelic
Composition
Ptch1dl/Ptch1dl
Genetic
Background
involves: 129S1/SvImJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1dl mutation (0 available); any Ptch1 mutation (89 available)
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 Ptch1dl/Ptch1dl mutants

mortality/aging
• mice do not survive to weaning

craniofacial
• 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
• narrow along the rostral caudal axis
• abnormally wide distance between the two frontal bones
• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull
• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull
• fails to extend caudally
• in some mice
• in some mice
• underdeveloped

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

growth/size/body
• rounded skull with an abnormal angle between the cranium and the snout
• in some mice
• in some mice
• underdeveloped

digestive/alimentary system
• in some mice
• in some mice
• underdeveloped

skeleton
• 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
• narrow along the rostral caudal axis
• abnormally wide distance between the two frontal bones
• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull
• fusion of the parietal and interparietal bones especially toward the more ventral aspect of the skull
• fails to extend caudally
• a large central foramen
• disorganized with irregular ossification and asymmetric ribs
• thicker and/or irregular
• thicker and/or irregular
• 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:109400
J:204468




Genotype
MGI:5544605
ht2
Allelic
Composition
Ptch1dl/Ptch1tm1Zim
Genetic
Background
involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1dl mutation (0 available); any Ptch1 mutation (89 available)
Ptch1tm1Zim mutation (2 available); any Ptch1 mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Kinked tail, omphalocele, and abnormal skull shape in Ptch1dl/Ptch1tm1Zim embryos

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

growth/size/body
• small at E18.5
• domed skull with distinct angular separation from the snout at E18.5

limbs/digits/tail
• at E18.5

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




Genotype
MGI:5544603
ht3
Allelic
Composition
Ptch1dl/Ptch1tm1Mps
Genetic
Background
involves: 129S1/SvImJ * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1dl mutation (0 available); any Ptch1 mutation (89 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Ptch1dl/Ptch1tm1Mps mice

mortality/aging
• some mice are dead upon collection at E18.5

craniofacial
• mice with normal neural closure exhibit craniofacial defects similar to in Ptch1dl homozygotes
• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1dl homozygotes
• fusion of the parietal and interparietal bones
• fusion of the parietal and interparietal bones
• underdeveloped

limbs/digits/tail
• in all forelimbs and the majority of hindlimbs
• in all forelimbs and the majority of hindlimbs

nervous system
• in several mice at E18.5

digestive/alimentary system
• underdeveloped

skeleton
• defects in the formation of endochondrial bones of the calvaria that are more severe than in Ptch1dl homozygotes
• fusion of the parietal and interparietal bones
• fusion of the parietal and interparietal bones
• in 5 of 10 mice
• disorganized and thicker than in control mice with more ossification

growth/size/body
• underdeveloped





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)
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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory