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Phenotypes Associated with This Genotype
Genotype
MGI:2174786
Allelic
Composition
Trp73tm1Fmc/Trp73tm1Fmc
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp73tm1Fmc mutation (0 available); any Trp73 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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

immune system
• 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
• adult homozygotes exhibit chronic infections and inflammation
• in adulthood, >80% of homozygotes display conjunctivitis
• 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
• 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
• in adulthood (but not earlier), homozygotes contain E. coli, P. aerogenes and micrococcal species in affected sites; however, lymphoid and granulocyte populations remain normal

nervous system
• homozygotes exhibit intracranial hemorrhage in ~15% of mortalities
• 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
• homozygotes show absence of Cajal-Retzius cells in the cortical marginal zone and hippocampal molecular layer; however, no cortical lamination defect is observed
• homozygotes exhibit a mild, congenital hydrocephalus
• some homozygotes display a highly morbid form of communicating hydrocephalus, marked by severely expanded lateral ventricles, a compressed cortex and intraventricular hemorrhage
• 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
• mossy fiber and polysialylated neural cell adhesion molecule-positive projections are shorter in the CA3 region
• 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)
• mossy fiber projections in the CA3 region are reduced in length
• hippocampal neurons in the dentate gyrus show a disorganized distribution and altered morphology
• neurons have a reduced number of branches and shorter dendrites
• cultured DIV 5 cortical neurons show a significant reduction in the number of branches resulting in a decrease in dendritic tree complexity
• the presence of non-obstructive hydrocephalus in some homozygotes indicates possible defects in the production or reabsorption of CSF

hearing/vestibular/ear
• 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

digestive/alimentary system
• most commonly, homozygotes display massive gastrointestinal hemorrhages followed by death
• at P7, homozygotes display an absence of enterocytes
• at P7, homozygotes display a distended and eroded ileum
• at P7, homozygotes exhibit excessive mucosecetion in the duodenum, ileum and cecum

cardiovascular system
• most commonly, homozygotes display massive gastrointestinal hemorrhages followed by death
• homozygotes exhibit intracranial hemorrhage in ~15% of mortalities

growth/size/body
• 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
• in adulthood, >80% of homozygotes display periorbital edema
• homozygous mutant pups display runting
• at P7, homozygotes display features of wasting, such as excessive digestive mucosecretion

respiratory system
• 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
• 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
• 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

vision/eye
• in adulthood, >80% of homozygotes display periorbital edema
• in adulthood, >80% of homozygotes display conjunctivitis

craniofacial
• at weaning, homozygotes display domed crania associated with expansion of ventricles, compression of the cortex and intracranial hemorrhaging
• 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
• in adulthood, >80% of homozygotes display periorbital edema

skeleton
• at weaning, homozygotes display domed crania associated with expansion of ventricles, compression of the cortex and intracranial hemorrhaging

homeostasis/metabolism
• in adulthood, >80% of homozygotes display periorbital edema

behavior/neurological
• male homozygotes lack aggressive responses towards other males
• male homozygotes lack interest in sexually mature females

reproductive system
• matings of female homozygotes with wild-type males fail to result in pregnancies, indicating a defect in conceiving or maintaining embryos

neoplasm
N
• homozygotes aged 2-15 months show no increased susceptibility to spontaneous tumorigenesis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
otitis media DOID:10754 OMIM:166760
J:60896


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
03/13/2019
MGI 6.13
The Jackson Laboratory