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Phenotypes Associated with This Genotype
Genotype
MGI:4889103
Allelic
Composition
Edardl-J/Edardl-J
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edardl-J mutation (2 available); any Edar mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• the embryonic CVP is dysplastic, appearing as a downward fissure rather than a raised dome
• histological indications of developing minor salivary glands in E15.5 embryos are absent
• exogenous Fgf8 and Shh do not fully rescue lingual gland development in E13.5 tongue explants after 4 days in culture
• in adult mutant mice
• in adult mutant mice

endocrine/exocrine glands
• histological indications of developing minor salivary glands in E15.5 embryos are absent
• exogenous Fgf8 and Shh do not fully rescue lingual gland development in E13.5 tongue explants after 4 days in culture
• in adult mutant mice
• in adult mutant mice
• there are no sweat glands on the footpads

integument
• there are no sweat glands on the footpads
• mutant mice have only one hair type that appears intermediate between guard and awl forms
• hair is not found on the tail

craniofacial
• due to failure of cell condensation, the molars of developing mice have "ropes" of enamel cells extending across the tooth primordium rather than a central signaling center or enamel knot
• the embryonic CVP is dysplastic, appearing as a downward fissure rather than a raised dome

growth/size/body
• due to failure of cell condensation, the molars of developing mice have "ropes" of enamel cells extending across the tooth primordium rather than a central signaling center or enamel knot
• the embryonic CVP is dysplastic, appearing as a downward fissure rather than a raised dome

vision/eye

skeleton
• due to failure of cell condensation, the molars of developing mice have "ropes" of enamel cells extending across the tooth primordium rather than a central signaling center or enamel knot

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypohidrotic ectodermal dysplasia DOID:14793 J:50575


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
11/12/2024
MGI 6.24
The Jackson Laboratory