Analysis Tools
mortality/aging
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• Background Sensitivity: at weaning, homozygotes of a mixed (unspecified) genetic background exhibit about a 50% reduction in postnatal survival relative to wild-type littermates; postnatal survival is further reduced to less than 25% on a predominantly 129 genetic background
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immune system
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• pre-weaning homozygotes exhibit severe purulent otitis media, with massive neutrophil infiltrates and mucosecretions detected as early as P2
• in adulthood, >80% of homozygotes display chronic otitis media
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• adult homozygotes exhibit chronic infections and inflammation
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• in adulthood, >80% of homozygotes display conjunctivitis
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• pre-weaning homozygotes exhibit severe purulent rhinitis, with massive neutrophil infiltrates and mucosecretions detected as early as P2
• in adulthood, >80% of homozygotes display chronic, bilateral rhinitis
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• at P2, homozygotes exhibit massive sinus inflammation, characterized by mucoserous secretions, neutrophil infiltrates, goblet cell hyperplasia of the surrounding epithelia but absence of obvious Gram-staining pathogens
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• in adulthood (but not earlier), homozygotes contain E. coli, P. aerogenes and micrococcal species in affected sites; however, lymphoid and granulocyte populations remain normal
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nervous system
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• homozygotes exhibit intracranial hemorrhage in ~15% of mortalities
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• in homozygotes, the vomeronasal organ, an accessory olfactory struture involved in pheromone detection, lacks pheromone receptors V1R and V2R as well as expression of the olfactory cell adhesion molecule (OCAM), suggesting abnormal pheromone sensory pathways and loss of pheromone responses
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• homozygotes show absence of Cajal-Retzius cells in the cortical marginal zone and hippocampal molecular layer; however, no cortical lamination defect is observed
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hydrocephaly
(
J:60896
)
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• homozygotes exhibit a mild, congenital hydrocephalus
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• some homozygotes display a highly morbid form of communicating hydrocephalus, marked by severely expanded lateral ventricles, a compressed cortex and intraventricular hemorrhage
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• homozygotes exhibit hippocampal dysgenesis, as shown by aberrant arrangements of the CA1-CA3 pyramidal cells layer and the dentate gyrus
• in contrast, the neocortex and cerebellum appear unaffected
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• mossy fiber and polysialylated neural cell adhesion molecule-positive projections are shorter in the CA3 region
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• the mutant dentate gyrus lacks an infrapyramidal blade while the suprapyramidal blade is hypertrophic and extended
(J:60896)
• hippocampal neurons in the dentate gyrus show a disorganized distribution and altered morphology
(J:180144)
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• mossy fiber projections in the CA3 region are reduced in length
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• hippocampal neurons in the dentate gyrus show a disorganized distribution and altered morphology
• neurons have a reduced number of branches and shorter dendrites
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• cultured DIV 5 cortical neurons show a significant reduction in the number of branches resulting in a decrease in dendritic tree complexity
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• the presence of non-obstructive hydrocephalus in some homozygotes indicates possible defects in the production or reabsorption of CSF
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hearing/vestibular/ear
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• pre-weaning homozygotes exhibit severe purulent otitis media, with massive neutrophil infiltrates and mucosecretions detected as early as P2
• in adulthood, >80% of homozygotes display chronic otitis media
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digestive/alimentary system
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• most commonly, homozygotes display massive gastrointestinal hemorrhages followed by death
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• at P7, homozygotes display an absence of enterocytes
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• at P7, homozygotes display a distended and eroded ileum
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• at P7, homozygotes exhibit excessive mucosecetion in the duodenum, ileum and cecum
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cardiovascular system
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• most commonly, homozygotes display massive gastrointestinal hemorrhages followed by death
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• homozygotes exhibit intracranial hemorrhage in ~15% of mortalities
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growth/size/body
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• in homozygotes, the vomeronasal organ, an accessory olfactory struture involved in pheromone detection, lacks pheromone receptors V1R and V2R as well as expression of the olfactory cell adhesion molecule (OCAM), suggesting abnormal pheromone sensory pathways and loss of pheromone responses
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• in adulthood, >80% of homozygotes display periorbital edema
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• homozygous mutant pups display runting
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• at P7, homozygotes display features of wasting, such as excessive digestive mucosecretion
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respiratory system
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• in homozygotes, the vomeronasal organ, an accessory olfactory struture involved in pheromone detection, lacks pheromone receptors V1R and V2R as well as expression of the olfactory cell adhesion molecule (OCAM), suggesting abnormal pheromone sensory pathways and loss of pheromone responses
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• pre-weaning homozygotes exhibit severe purulent rhinitis, with massive neutrophil infiltrates and mucosecretions detected as early as P2
• in adulthood, >80% of homozygotes display chronic, bilateral rhinitis
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• at P2, homozygotes exhibit massive sinus inflammation, characterized by mucoserous secretions, neutrophil infiltrates, goblet cell hyperplasia of the surrounding epithelia but absence of obvious Gram-staining pathogens
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vision/eye
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• in adulthood, >80% of homozygotes display conjunctivitis
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craniofacial
domed cranium
(
J:60896
)
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• at weaning, homozygotes display domed crania associated with expansion of ventricles, compression of the cortex and intracranial hemorrhaging
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• in homozygotes, the vomeronasal organ, an accessory olfactory struture involved in pheromone detection, lacks pheromone receptors V1R and V2R as well as expression of the olfactory cell adhesion molecule (OCAM), suggesting abnormal pheromone sensory pathways and loss of pheromone responses
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• in adulthood, >80% of homozygotes display periorbital edema
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skeleton
domed cranium
(
J:60896
)
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• at weaning, homozygotes display domed crania associated with expansion of ventricles, compression of the cortex and intracranial hemorrhaging
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homeostasis/metabolism
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• in adulthood, >80% of homozygotes display periorbital edema
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behavior/neurological
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• male homozygotes lack aggressive responses towards other males
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• male homozygotes lack interest in sexually mature females
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reproductive system
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• matings of female homozygotes with wild-type males fail to result in pregnancies, indicating a defect in conceiving or maintaining embryos
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neoplasm
| N |
• homozygotes aged 2-15 months show no increased susceptibility to spontaneous tumorigenesis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| otitis media | DOID:10754 | J:60896 | ||
