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Phenotypes Associated with This Genotype
Genotype
MGI:5437367
Allelic
Composition
Chd7Ome/Chd7+
Genetic
Background
involves: BALB/cByJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7Ome mutation (0 available); any Chd7 mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ear abnormalities in Chd7Ome/Chd7+ mice

reproductive system

hearing/vestibular/ear
• mice exhibit decreased epithelial cilia density and increased goblet cell density in the middle ear compared with wild-type mice
• shifted towards the anterior crus and a smaller obturator foramen
• thinner and partially fused with surrounding bones
• greater Eustachian tube angle
• mean ABR thresholds in each age-group from P21 to P120 are significantly higher than those of wild-type mice at all the frequencies tested
• mutant mice have amplitudes below zero at every frequency tested from P21 to P120, substantially lower than those in wild-type mice
• as early as P11, most mice exhibit otitis media with effusion, thickened epithelia, a dilated periosteum and inflammatory cells, increased goblet cells, cilia loss in the middle ear and Eustachian without bacterial cause compared with wild-type mice

craniofacial
• larger skull height/skull length ratio
• shifted towards the anterior crus and a smaller obturator foramen
• thinner and partially fused with surrounding bones
• larger nose bone length to skull length ratio

growth/size/body
• larger nose bone length to skull length ratio
• at weaning
• at weaning

behavior/neurological

immune system
• as early as P11, most mice exhibit otitis media with effusion, thickened epithelia, a dilated periosteum and inflammatory cells, increased goblet cells, cilia loss in the middle ear and Eustachian without bacterial cause compared with wild-type mice

nervous system

skeleton
• larger skull height/skull length ratio
• shifted towards the anterior crus and a smaller obturator foramen
• thinner and partially fused with surrounding bones

Mouse Models of Human Disease
OMIM ID Ref(s)
CHARGE Syndrome 214800 J:187200


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory