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Phenotypes Associated with This Genotype
Genotype
MGI:3584381
Allelic
Composition
Shhtm1Amc/Shhtm2Amc
Tg(KRT14-cre)1Amc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1Amc mutation (1 available); any Shh mutation (48 available)
Shhtm2Amc mutation (1 available); any Shh mutation (48 available)
Tg(KRT14-cre)1Amc mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant newborns die within a day after birth

craniofacial
• at birth, mutant pups display flattened skulls
• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
• at birth, incisors are only 5% of normal size
• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
• the dental cord is absent in mandibular molars
• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
• the rudimentary palatal shelves are spaced widely apart
• the palatal shelves fail to develop beyond rudimentary processes
• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart

skeleton
N
• at birth, mutant pups possess normal skeletal elements; the upper and lower jaws are of normal length
• at birth, mutant pups display flattened skulls
• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
• at birth, incisors are only 5% of normal size
• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
• the dental cord is absent in mandibular molars
• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

vision/eye

respiratory system
• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

digestive/alimentary system
• the rudimentary palatal shelves are spaced widely apart
• the palatal shelves fail to develop beyond rudimentary processes
• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart
• at birth, mutant pups are observed gulping air

integument

growth/size/body
• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
• at birth, incisors are only 5% of normal size
• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
• the dental cord is absent in mandibular molars
• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
• the rudimentary palatal shelves are spaced widely apart
• the palatal shelves fail to develop beyond rudimentary processes
• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart


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
12/10/2024
MGI 6.24
The Jackson Laboratory