Analysis Tools|
Allele Symbol Allele Name Allele ID |
Foxn1nu nude MGI:1856108 |
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| Summary |
29 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased at 4 weeks of age but declines later
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• reduced cortical bone structure
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• reduced trabecular bone structure
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice showed no sign of lesion development for up to 12 to 14 weeks post-infection; after 20 weeks, all lesions remain small
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only 2 mice survived for more than 10 days after infection and 90% of mice die by 14 days post infection
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• mice are resistant to Pseudomonas aerugiosa exotoxin-induced liver damage and decreased circulating cytokine levels, including TNF, unlike similarly treated wild-type mice
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• following exposure to Pseudomonas aerugiosa exotoxin
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• following exposure to Pseudomonas aerugiosa exotoxin
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• mice are resistant to Pseudomonas aerugiosa exotoxin-induced liver damage and circulating cytokine levels, including TNF, unlike similarly treated wild-type mice
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• following exposure to Pseudomonas aerugiosa exotoxin
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• more severe following infection with HSV-1 strain CJ394 compared to controls
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• mice are resistant to Pseudomonas aerugiosa exotoxin-induced liver damage and decreased circulating cytokine levels, including TNF, unlike similarly treated wild-type mice
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• following infection with HSV-1 strain CJ394 young mice (7-10 weeks of age) develop more severe ocular disease and develop severe extra ocular disease not seen in controls
• extraocular disease is more severe than in heterozygous mice
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• only 2 mice survived for more than 10 days after infection and 90% of mice die by 14 days post infection
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• mice are resistant to Pseudomonas aerugiosa exotoxin-induced liver damage and decreased circulating cytokine levels, including TNF, unlike similarly treated wild-type mice
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• following exposure to Pseudomonas aerugiosa exotoxin
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• following exposure to Pseudomonas aerugiosa exotoxin
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• mice are resistant to Pseudomonas aerugiosa exotoxin-induced liver damage and circulating cytokine levels, including TNF, unlike similarly treated wild-type mice
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• following exposure to Pseudomonas aerugiosa exotoxin
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• develop within 4-8 weeks of plasma cell transplant; ascites contains many plasma cells, some of which are multinucleated and contain high levels of IgA
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• nail phenotype is 100% penetrant
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• broken with blunt ends
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• plasma cells isolated from BALB/c/C57BL/6 mice generate plasmacytomas in pristane-treated BALB/c nude mice within 4-8 weeks
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• plasmacytomas generated are near-tetraploid and contain the t(12;15) translocation
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• more severe following infection with HSV-1 strain CJ394 compared to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• elevation in hydroxyproline in the tibialis anterior and soleus muscles on a per muscle and wet weight basis at 3 weeks of age but not at 24 weeks of age
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• in the tibialis anterior and soleus muscles at 3 weeks of age
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• in the limb muscles at 3 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E16 in the thymic rudiment TR3+ cells are absent and the number of TR4+ and TR5+ cells are reduced
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• at E16 in the thymic rudiment TR3+ cells are absent and the number of TR4+ and TR5+ cells are reduced
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• at E16 in the thymic rudiment TR3+ cells are absent and the number of TR4+ and TR5+ cells are reduced
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decrease in the number of agranulocytes (lymphocytes plus monocytes) in the peripheral blood in older mice
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• very few theta isoantigen expressing cells are detected in the lymph nodes
• no difference is detected in the number of theta antigen expressing cells in the brain
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• injection of phytohaemagglutinin does not result in an increase in popliteal or inguinal node weight
• fewer plaque forming cells per spleen and when normalized to the number of nucleated spleen cells following immunization with sheep red blood cells
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• very few theta isoantigen expressing cells are detected in the lymph nodes
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• fewer plaque forming cells per spleen and when normalized to the number of nucleated spleen cells following immunization with sheep red blood cells
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• decrease in the number of agranulocytes (lymphocytes plus monocytes) in the peripheral blood in older mice
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• very few theta isoantigen expressing cells are detected in the lymph nodes
• no difference is detected in the number of theta antigen expressing cells in the brain
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• injection of phytohaemagglutinin does not result in an increase in popliteal or inguinal node weight
• fewer plaque forming cells per spleen and when normalized to the number of nucleated spleen cells following immunization with sheep red blood cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• impact of immobilization stress on luteinizing hormone level is reduced compared to heterozygous controls
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• impact of immobilization stress on luteinizing hormone level is reduced compared to heterozygous controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when maintained under SPF conditions, mortality from 6 weeks to 12 months of age is similar to controls
• after 12 months, of age the mortality rate per month is about twice that of heterozygous controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• sulfur content of the hair fibers is reduced
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• hair shafts from the flank show multiple fractures, are twisted, crippled and bent, and locally thickened by numerous fusiform bulges
• hair shafts below the epidermis are composed of globular and discontinuous conglomerates of horny material
• most shafts fail to reach the epidermal surface and those that do are weak and fragile
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• pigment granules are only randomly detected in the hair cortex
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• missing irregularly in the zone of final hardening
• the cortex of the intrafollicular part of the hair shaft is always fragmented into globular and irregularly formed aggregates and includes unusual filamentous substances
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• impaired
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• missing irregularly in the zone of final hardening
• occupied by abnormal globular aggregates
• either discontinuous or more frequently totally absent
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• there is a prominent granular layer between the upper layers of the stratum spinosum and the nail plate
• the nail bed epithelium does not appear to be abnormal
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• the matrix region is severely altered
• some suprabasal cells show increased cytoplasm often associated with multiple intracytoplasmic vacuoles
• keratinocytes high in the spinous layer show striped cytoplasm
• the matrix zone is thinner and extends farther toward the distal tip of the nail
• the ventral epithelium of the proximal nail fold and the suprabasal cells of the nail matrix lack keratin 1 immunoreactivity and show abnormal expression of filaggrin
• keratohyalin granules of irregular size and shape are present in the cytoplasm of the suprabasal keratinocytes and insert into the aggregated tonofilaments disturbing filament aggregation
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• the nail plate is compact and narrows toward the tip of the nail
• the nail plate is markedly thinner at both the proximal nail fold and the tip of the nail
• nail plates consist of smaller, elongated superficial squames with slightly irregular surfaces and serrated borders
• the nail plate appears basophilic
• the dorsal nail plate separates from the hyponychium but bends toward the ventral side and breaks off
• sulfur content of the nail plate is reduced
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• blunt, broken, irregularly formed ends
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• severely shortened nails
• in most mice the nails terminate at the junction of the nail plate and the hyponychium
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• hair follicles in the zone of final hardening show pronounced pathological changes
• however, the number of hair bulbs is similar to controls
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• missing irregularly in the zone of final hardening
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• fibrils are more tightly packed than in controls
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• half-desmosomes attaching basal cells to the subjacent basal lamina are irregularly spaced with only scantly tonofilaments attached to them
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• cells contain only few and small bundles of tonofilaments
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• highly irregular, with areas of large piles of horny substances and projected corneocytes alternated with regions of only few and extremely attenuated corneous layers
• the lamellae are irregularly shaped and detached from one another, with intercellular contact lost over large areas
• the layer is loosened with increased distance from the granular layer
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• the skin surface looks rough because of bizarrely formed and projected corneocytes
• the interior of the corneocytes has an inhomogeneous appearance
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• markedly reduced number and thickness of tonofilament bundles
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• the cervical duct has not narrowed and the third cleft covers only the dorsal part of the third branchial pouch at E1.5
• the ectoderm of the third cleft covers only the distal extremity and a small part of the cranial and caudal walls of the third pouch at E11.5
• at the end of the 11th day the pharyngo-branchial duct is reduced to a thin cord of cells that later disappears and the cervical duct also degenerates
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| N |
• the structure of the parathyroid is identical to controls at E16 and E17
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• at E12 the ectoderm covers only the mid-portion of the ventral and external surfaces of the endoderm
• at E12.5 the primitive thymus is essentially endodermal with the ectodermal portion confined to the cranial region
• between E12 and E14 the volume of the thymus merely doubles rather than growing exponentially as in controls and the epithelial mass does not increase from E14 to E16
• at no time is the epithelium invaded by lymphoid cells
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• at E12 the ectoderm covers only the mid-portion of the ventral and external surfaces of the endoderm
• at E12.5 the primitive thymus is essentially endodermal with the ectodermal portion confined to the cranial region
• between E12 and E14 the volume of the thymus merely doubles rather than growing exponentially as in controls and the epithelial mass does not increase from E14 to E16
• at no time is the epithelium invaded by lymphoid cells
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• pigment granules are only randomly detected in the hair cortex
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• at E12 the ectoderm covers only the mid-portion of the ventral and external surfaces of the endoderm
• at E12.5 the primitive thymus is essentially endodermal with the ectodermal portion confined to the cranial region
• between E12 and E14 the volume of the thymus merely doubles rather than growing exponentially as in controls and the epithelial mass does not increase from E14 to E16
• at no time is the epithelium invaded by lymphoid cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 100% mortality by 25 weeks
(J:5043)
• most die within a few weeks of weaning
(J:30772)
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• some mice die within 1 week of birth
• 55% mortality within 2 weeks
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• a much smaller and dorsoventrally flattened thymic rudiment is present at E14-E15
• a thymic rudiment comprised of vesicles and lacking lymphoid cells is present at P1-P2
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• liver lobes were atrophied and covered with red scars
• variable degrees of severity, typically increasing with age at time of death
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• many sperm had coiled tails
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• many females exhibited continuous dioestrus and metaoestrus phases
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• severely reduced fertility
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• a much smaller and dorsoventrally flattened thymic rudiment is present at E14-E15
• a thymic rudiment comprised of vesicles and lacking lymphoid cells is present at P1-P2
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• the proportion of red to white pulp is greater than normal
• in some cases the Malpighian follicles are present but are fewer in number and smaller than in controls
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• in some cases an unusually high number of megakaryocytes is seen in the red pulp
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• virtual absence of small lymphocytes in the thymus dependent area and the post-capillary venules are often thin walled and empty
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• sparse hair growth around 5 weeks of age
(J:5043)
• in some mice, cephalo-caudal migration of an irregular band of short sparse hair
(J:5043)
• mice fail to grow a first coat of hair
(J:30772)
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• absent at birth
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• older mice show repeated growth and loss of short and wavy vibrissae
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• older mice show repeated growth and loss of short and wavy vibrissae
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• reduction in skin thickness at 3 weeks of age, corresponding to the catagen stage of normal skin
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• longer latency during the acquisition and reversal phases in a Morris water maze
• in the extinction phase spend more time in the training quadrant and are less able to recall data from the previous day's training
• replenishing mice with T cells from wild-type mice improves performance in a Morris water maze
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• in the thymus dependent area of the lymph nodes the post-capillary venules are often thin walled and empty
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• a much smaller and dorsoventrally flattened thymic rudiment is present at E14-E15
• a thymic rudiment comprised of vesicles and lacking lymphoid cells is present at P1-P2
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• the proportion of red to white pulp is greater than normal
• in some cases the Malpighian follicles are present but are fewer in number and smaller than in controls
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• in some cases an unusually high number of megakaryocytes is seen in the red pulp
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• many sperm had coiled tails
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:202300 | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | DOID:0060769 |
OMIM:601705 |
J:11959 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• there is a prominent granular layer between the upper layers of the stratum spinosum and the nail plate
• the nail bed epithelium does not appear to be abnormal
|
|
• the matrix region is severely altered
• some suprabasal cells show increased cytoplasm often associated with multiple intracytoplasmic vacuoles
• keratinocytes high in the spinous layer show striped cytoplasm
• the matrix zone is thinner and extends farther toward the distal tip of the nail
• the ventral epithelium of the proximal nail fold and the suprabasal cells of the nail matrix lack keratin 1 immunoreactivity and show abnormal expression of filaggrin
• keratohyalin granules of irregular size and shape are present in the cytoplasm of the suprabasal keratinocytes and insert into the aggregated tonofilaments disturbing filament aggregation
|
|
• the nail plate appears basophilic
• the dorsal nail plate separates from the hyponychium but bends toward the ventral side and breaks off
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• more severe and lasting longer following infection with HSV-1 strain CJ394 compared to controls
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• develop stromal keratitis 8 days after infection with HSV-1 strain CJ394 while homozygous and wild-type mice display only slight corneal cloudiness
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• following infection with HSV-1 strain CJ394 young mice (7-10 weeks of age) develop more severe ocular disease and develop severe extra ocular disease not seen in controls
• extraocular disease is less severe than in homozygous mice
• extensive herpetiform spread is seen, in some cases the tissue damage is so severe that the skull is exposed
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• detected 8 to 14 days after infection with HSV-1 strain CJ394in heterozygotes but not in wild-type or homozygous mice
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• more severe and lasting longer following infection with HSV-1 strain CJ394 compared to controls
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• develop stromal keratitis 8 days after infection with HSV-1 strain CJ394 while homozygous and wild-type mice display only slight corneal cloudiness
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• detected 8 to 14 days after infection with HSV-1 strain CJ394in heterozygotes but not in wild-type or homozygous mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• thymus lobes are rimmed to a varying degree with brown fat tissue and often asymmetrical in shape
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• lobes are significantly smaller at P7 and P14
• difference in size compared to wild-type controls increases with age
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• thymus lobes are rimmed to a varying degree with brown fat tissue and often asymmetrical in shape
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• lobes are significantly smaller at P7 and P14
• difference in size compared to wild-type controls increases with age
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• thymus lobes are rimmed to a varying degree with brown fat tissue and often asymmetrical in shape
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• lobes are significantly smaller at P7 and P14
• difference in size compared to wild-type controls increases with age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following tamoxifen treatment, mature medullary thymic epithelial cells undergo increased apoptosis compared to in wild-type mice
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• following tamoxifen treatment, medullary thymic epithelial cells are reduced compared to in wild-type mice
• mature medullary thymic epithelial cells are more affected than presumptive medullary thymic epithelial cell precursors following tamoxifen treatment
• however, cortical thymic epithelial cells are not significantly reduced following tamoxifen treatment
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• following tamoxifen treatment
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• following tamoxifen treatment, mature medullary thymic epithelial cells undergo increased apoptosis compared to in wild-type mice
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• following tamoxifen treatment, medullary thymic epithelial cells are reduced compared to in wild-type mice
• mature medullary thymic epithelial cells are more affected than presumptive medullary thymic epithelial cell precursors following tamoxifen treatment
• however, cortical thymic epithelial cells are not significantly reduced following tamoxifen treatment
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• following tamoxifen treatment
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• following tamoxifen treatment, mature medullary thymic epithelial cells undergo increased apoptosis compared to in wild-type mice
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• following tamoxifen treatment, mature medullary thymic epithelial cells undergo increased apoptosis compared to in wild-type mice
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• following tamoxifen treatment, medullary thymic epithelial cells are reduced compared to in wild-type mice
• mature medullary thymic epithelial cells are more affected than presumptive medullary thymic epithelial cell precursors following tamoxifen treatment
• however, cortical thymic epithelial cells are not significantly reduced following tamoxifen treatment
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• following tamoxifen treatment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double mutants survive beyond 2 months compared to 21 days for Tgfb1 null mice (3-4 month increase in longevity)
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• animals have a severe reduction of CD4+ and CD8+ T cells
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• organ inflammation is prevented compared to single mutants
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• animals have a severe reduction of CD4+ and CD8+ T cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• nail phenotype is 100% penetrant
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• hyperplastic with multiple layers of cells with no visible transition from nail matrix to nail bed
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• distal matrix hyperproliferation
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• rugged surface with irregular squames
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• broken with blunt ends
• break beyond the hyponychium
• break is more proximal than in Foxn1nu single mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 90% loss of TCRVgamma7+ intraepithelial lymphocytes (IELs) in the gut
• almost total loss of TCRVgamma7GL2+ IELs in the gut
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• 90% loss of TCRVgamma7+ intraepithelial lymphocytes (IELs) in the gut
• almost total loss of TCRVgamma7GL2+ IELs in the gut
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• almost completely suppresses growth of ecotropic MuLV and MuSv
(J:5714)
• does not develop ecotropic virus-induced splenomegaly or focal lesions on spleen
(J:5684)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• small intestines lack IgA+ B cells unlike in wild-type mice
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• mature T cells are virtually absent
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• gamma-delta intraepithelial T cell are decreased by a factor of 2 compared to in Foxn1nu homozygotes
• however, gamma-delta intraepithelial T cells colonize the intestinal epithelia
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• small intestines lack IgA+ B cells unlike in wild-type mice
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• mature T cells are virtually absent
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• gamma-delta intraepithelial T cell are decreased by a factor of 2 compared to in Foxn1nu homozygotes
• however, gamma-delta intraepithelial T cells colonize the intestinal epithelia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• injection of tumor forming cells does not result in tumor formation or results in tumor formation followed by spontaneous regression
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• elevated hydroxyproline levels in the heart, tibialis anterior and soleus when normalized to wet weight but not on a per muscle basis in mice at 3 weeks of age but not at 24 weeks of age
• unlike in mice homozygous for Dmdmdx alone, necrosis has not started at 3 weeks of age
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• in the tibialis anterior at 3 weeks of age
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• in the soleus muscles at 3 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• athymic mutants exhibit decreased tumor angiogenesis and metastasis following intrapancreatic implantation with either PANC-1 or T3M4 human pancreatic cancer cells and fewer pulmonary metastates following intravenous injection of murine B16-F10 melanoma cells
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• isolated hepatic endothelial cells exhibit an attenuated mitogenic response to VEGF-A, with cells showing a smaller increase in cell proliferation than wild-type in response to VEGF-A
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• demonstrated in culture
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• increased histiocytic engorgement observed in this genotype
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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 12/17/2024 MGI 6.24 |
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