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Phenotypes Associated with This Genotype
Genotype
MGI:5295269
Allelic
Composition
Spef2bgh/Spef2bgh
Genetic
Background
involves: C57BL/6J * C57BL/10J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spef2bgh mutation (1 available); any Spef2 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: average age of death is 24.5 days unlike mice on a mixed background
• Background Sensitivity: some mice a few days after birth or within 1 week due to severe hydrocephalus unlike mice on a mixed background

reproductive system
N
• female mice are fertile

nervous system
• extensive ependymal cell sloughing in the underlying white layer
• however, ependymal cell cilia exhibit normal morphology
• 2.2 times greater
• in the underlying white layer

craniofacial
• enlarged indicating ventricular dilatation

respiratory system
• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

skeleton
• enlarged indicating ventricular dilatation

cellular
• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
primary ciliary dyskinesia DOID:9562 OMIM:PS244400
J:176695


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
09/22/2022
MGI 6.21
The Jackson Laboratory