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Phenotypes Associated with This Genotype
Genotype
MGI:3511132
hm1
Allelic
Composition
Pdgfctm1Nagy/Pdgfctm1Nagy
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfctm1Nagy mutation (0 available); any Pdgfc mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes survive to weaning
• 95% of mutants die within 1 day of birth

craniofacial
• failure of the palatal bones to extend across the roof of the oronasal cavity
• by E15.5, the palatal shelves were hypoplastic and failed to fuse
• the number of medial edge epithelial cells is reduced and those present lack filopodia probably contributing to the failure of mutant palatal shelves to fuse even when brought into close contact in vitro
• mutants that die shortly after birth have a complete cleft of the secondary palate
• at E14.5, the palatal shelves failed to elevate, even when the tongue had moved away
• the nasal septum is shorter than normal

homeostasis/metabolism
• subcutaneous edema is seen in the flank of the body between the limbs

respiratory system
• the nasal septum is shorter than normal

digestive/alimentary system
• failure of the palatal bones to extend across the roof of the oronasal cavity
• by E15.5, the palatal shelves were hypoplastic and failed to fuse
• the number of medial edge epithelial cells is reduced and those present lack filopodia probably contributing to the failure of mutant palatal shelves to fuse even when brought into close contact in vitro
• mutants that die shortly after birth have a complete cleft of the secondary palate
• at E14.5, the palatal shelves failed to elevate, even when the tongue had moved away

embryo
• develops in the lower spine and is evident at birth

nervous system
• develops in the lower spine and is evident at birth

skeleton
• failure of the palatal bones to extend across the roof of the oronasal cavity
• develops in the lower spine and is evident at birth

integument
• severe blistering, often filled with blood, is seen in the frontonasal and lateral forehead region
• subepithelial blistering is seen in the posterior portion of the secondary palate and nasal septum

growth/size/body
• failure of the palatal bones to extend across the roof of the oronasal cavity
• by E15.5, the palatal shelves were hypoplastic and failed to fuse
• the number of medial edge epithelial cells is reduced and those present lack filopodia probably contributing to the failure of mutant palatal shelves to fuse even when brought into close contact in vitro
• mutants that die shortly after birth have a complete cleft of the secondary palate
• at E14.5, the palatal shelves failed to elevate, even when the tongue had moved away
• the nasal septum is shorter than normal


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
03/18/2025
MGI 6.24
The Jackson Laboratory