hearing/vestibular/ear
• fibrous thickening and perforation of the tympanic membrane associated with otitis media were common among adult heterozygotes over 29 days after birth
|
• common among adult heterozygotes over 29 days after birth
|
• late onset
(J:90559)
• demonstrated a hearing loss at approximately 40 days after birth
(J:113445)
|
• the middle ear cavity of adult mutant mice was filled with exudate, indicative of otitis media
• otitis media was resent in 100% of heterozygotes at weaning and continue to develop bilateral chronic suppurative otitis media
• no gross morphological defects of the inner ear and ossicular chain or ossification of the temporal bone and tympanic ring were found among mutant mice
• in conventionally housed mice, 100% of the mutant mice had acute otitis media by 13 days after birth compared to about 33% in wild-type
• in pathogen free facility condition, otitis media in mutant mice are relatively milder or absent at early time points and is not associated with rhinitis; however otitis media developed in 100% of mutant mice in this condition by 54 days after birth
|
reproductive system
• female heterozygotes undergo repeated spontaneous abortion
|
limbs/digits/tail
• extra digit
(J:90559)
• an extra digit is seen on one forelimb at E18.5
(J:113445)
|
immune system
N |
• no significant histological lesions in intestine, liver, pancreas, kidney, heart, thymus, and spleen
• no significances in the antibody responses, levels of immature, mature cell forms, and total circulating blood neutrophils
|
• significantly lower ratio of immature forms in the circulating neutrophil pool in 20-22 days after birth mutant, but not in 54-58 days after birth, compared to control
|
• the middle ear cavity of adult mutant mice was filled with exudate, indicative of otitis media
• otitis media was resent in 100% of heterozygotes at weaning and continue to develop bilateral chronic suppurative otitis media
• no gross morphological defects of the inner ear and ossicular chain or ossification of the temporal bone and tympanic ring were found among mutant mice
• in conventionally housed mice, 100% of the mutant mice had acute otitis media by 13 days after birth compared to about 33% in wild-type
• in pathogen free facility condition, otitis media in mutant mice are relatively milder or absent at early time points and is not associated with rhinitis; however otitis media developed in 100% of mutant mice in this condition by 54 days after birth
|
• in conventionally housed mice, otitis media found in 100% of heterozygotes mice are part of a more generalized respiratory tract inflammation
• no significant intralesional bacteria or viral inclusions
|
respiratory system
• in conventionally housed mice, otitis media found in 100% of heterozygotes mice are part of a more generalized respiratory tract inflammation
• no significant intralesional bacteria or viral inclusions
|
hematopoietic system
• significantly lower ratio of immature forms in the circulating neutrophil pool in 20-22 days after birth mutant, but not in 54-58 days after birth, compared to control
|
cellular
• significantly lower ratio of immature forms in the circulating neutrophil pool in 20-22 days after birth mutant, but not in 54-58 days after birth, compared to control
|
craniofacial
• craniofacial defect
|
growth/size/body
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
otitis media | DOID:10754 | J:113445 |