Analysis Tools
normal phenotype
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• mice are viable and fertile with normal body weight, spontaneous movement, and rotarod performance
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Allele Symbol Allele Name Allele ID |
Thtm1(cre)Te targeted mutation 1, Ted Ebendal MGI:3056580 |
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| Summary |
11 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable and fertile with normal body weight, spontaneous movement, and rotarod performance
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice die before the first year of age
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• adrenal medulla chromaffin cells exhibit decreased intracellular ATP compared with wild-type cells
• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice
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• exhibit impaired maturation and accelerated degeneration of dopaminergic cells, aggressively in the substantia nigra pars compacta, compared with wild-type mice
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• mice exhibit decreased neuron numbers in the adrenal medulla, carotid body and superior cervical ganglion compared with wild-type mice
• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice
• progressive reduction in the ventral mesencephalic TH+ neurons with almost complete disappearance of neurons between 6 and 12 months
• neurons loss is less severe in the ventral tegmental area
• however, treatment with an antioxidant in the drinking water rescues neuron survival
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• progressive bradykinetic syndrome with decreased distance traveled in the open field and increase in time spent at rest
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• progressive bradykinetic syndrome with decreased distance traveled in the open field and increase in time spent at rest
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• adrenal medulla chromaffin cells exhibit decreased intracellular ATP compared with wild-type cells
• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice
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• at 2.5 months, mice fail to exhibit an increase in dopamine and its metabolites unlike in wild-type mice
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• increased lipid peroxidation in the adrenal medulla
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• compound mutant mice show elevated scratching compared to wild-type but this is significantly reduced from that shown by mutants with intact Grpr function
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice display decreased responsiveness to radiant heat but response to mechanically-induced pain is not significantly different from wild-type controls
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• mice have decreased sensitivity to inflammatory pain induced by formalin injection, but response to mechanically-induced pain is not different from wild-type
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• latency of withdrawal in hot plate tests is significantly greater than wild-type at both 52 and 48 degrees
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| N |
• plasma creatinine, urea, and tyroxine 4 levels are normal, with slightly elevated by still within normal range levels of alanine aminotransferase; this excludes a systemic disorder (chronic itch) as underlying the elevated scratching
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• immune cells are found in the dermis in wounded areas indicative of prolonged scratching and rubbing
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• mice display thickened epidermis of psoriasiform type in wounded areas
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• mice develop lesions (ulcerations) in the neck and upper back region
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• mice display a chronic itch behavior (display frequent scratching episodes)
• topical application of a histamine receptor antagonist significantly reduces scratching behavior; oral administration of a blood-brain barrier impermeant antihistamine causes a similar reduction in scratching
• topical administration of capsaicin reduces the itch phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• slightly higher responsiveness to hypoxia
• however, mice exhibit normal ventilatory responses to hypoxia and hypercapnia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of acute responsiveness to hypoxia with decreased glomus cells exhibiting increased cytosolic calcium ions and catecholamine release, and decreased mitochondrial responses to hypoxia
• however, mitochondria complex IV function is normal and ventilatory response to hypercapnia is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• extensive liver metastases is seen in some mice
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• a low number of mice develop palpable neural crest-derived tumors between 130 and 351 days of age resembling neuroblastomas
• tumors form in the neck or abdomen
• the retroperitoneal tumors originate from the adrenal gland
• tumors consist of poorly differentiated cells with large nuclei and sparse neuropil
• neuroblastomas exhibit chromosomal aberrations recapitulating genomic aberrations of human neuroblastomas
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• some adrenals appear hypertrophic in mice that do not develop tumors
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• a low number of mice develop palpable neural crest-derived tumors between 130 and 351 days of age resembling neuroblastomas
• tumors form in the neck or abdomen
• the retroperitoneal tumors originate from the adrenal gland
• tumors consist of poorly differentiated cells with large nuclei and sparse neuropil
• neuroblastomas exhibit chromosomal aberrations recapitulating genomic aberrations of human neuroblastomas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neuroblastoma | DOID:769 | J:186696 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no homozygous mice are produced from breeding heterozygotes, suggesting embryonic lethality; time of death not specified
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• adult heterozygotes show no renal histological abnormalities up to 15 months of age; albuminuria (as measured by urine albumin/creatinine ratios), glomerulus basement membrane (GBM) thickness, and foot process width (as measured by slits/GBM length) are similar to those in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die before day 28
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• progressively runty from approximately day 14
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• progressive degeneration and consequent loss of neuronal projections to the basal ganglia
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• numerous eosinophilic intraneuronal paranuclear inclusions, containing ubiquitin, alpha-synuclein, and p62, similar to Lewy bodies in nigral neurons
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• decreased dopamine and norepinephrine in the striatum and hypothalamus
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• decreased dopamine and norepinephrine in the striatum and hypothalamus
• decreased norepinephrine in the hippocampus and brainstem
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype is identical to the mouse having Psmc1tm1Maye/Psmc1tm1.1Maye; Thtm1(cre)Te/Th+
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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 04/16/2024 MGI 6.23 |
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