Analysis Tools
renal/urinary system
| N |
• at P12, mice exhibit normal kidney size and histology relative to control mice, suggesting normal kidney development
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Allele Symbol Allele Name Allele ID |
Trpm7tm1Clph targeted mutation 1, David E Clapham MGI:3814705 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• at P12, mice exhibit normal kidney size and histology relative to control mice, suggesting normal kidney development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no viable embryos were found, no time of lethality was provided
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 85% penetrance of thymic abnormalities
• CD3+ T cells are found distributed throughout the thymus
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• increase in the percentage and number of double negative T cells
• increase in the percentage of cells in the DN3 stage
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• the boundary between the cortical and medullary regions is not well defined
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• progressive loss of thymic medullary cells
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• substantial reduction in the number of thymocytes
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• partial block in the transition from double negative to double positive T cells
• block appears to be at the DN3 to DN4 transition as a significant proportion of cells fail to down regulate CD25
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• slight decrease in the percentage and number of T cells in the spleen and lymph nodes but not in the intestine
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• thymocytes lack Mg2+ inhibitable current
• however, Mg2+ influx into freshly isolated T cells is unaffected
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• 85% penetrance of thymic abnormalities
• CD3+ T cells are found distributed throughout the thymus
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• increase in the percentage and number of double negative T cells
• increase in the percentage of cells in the DN3 stage
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• the boundary between the cortical and medullary regions is not well defined
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• progressive loss of thymic medullary cells
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• substantial reduction in the number of thymocytes
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• partial block in the transition from double negative to double positive T cells
• block appears to be at the DN3 to DN4 transition as a significant proportion of cells fail to down regulate CD25
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• slight decrease in the percentage and number of T cells in the spleen and lymph nodes but not in the intestine
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• thymocytes lack Mg2+ inhibitable current
• however, Mg2+ influx into freshly isolated T cells is unaffected
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• 85% penetrance of thymic abnormalities
• CD3+ T cells are found distributed throughout the thymus
|
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• increase in the percentage and number of double negative T cells
• increase in the percentage of cells in the DN3 stage
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• the boundary between the cortical and medullary regions is not well defined
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• progressive loss of thymic medullary cells
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• substantial reduction in the number of thymocytes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Representative images of grossly deformed, nonviable Trpm7tm1Clph/Trpm7tm1Clph Tg(CAG-cre/Esr1*)5Amc/0 embryos at E9.5 and E10.5
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• when a single tamoxifen dose (25 ug/g of body weight) is injected into pregnant females at early gestation stages (E7-E9), all embryos die within 48-72 hrs of treatment
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• following tamoxifen injection at E7-E9, dying embryos exhibit abnormal body patterning
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• following tamoxifen injection at E7-E9, non-viable embryos are grossly deformed at E9.5 and E10.5
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• following a single tamoxifen injection (25 ug/g of body weight) at E14.5, live pups are born in normal ratios, with no dead embryos found in utero 48 hrs after injection
• a single tamoxifen injection (50 ug/g of body weight) into 6-wk-old mice results in normal survival with grossly normal adult mice at 1-2 months after injection
• following 3 daily tamoxifen injections (25-50 ug/g of body weight) into 4-wk-old mice, all adult mice show normal kidney, heart, and liver histology at 4 weeks after injection
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are born in normal Mendelian ratios and survive to adulthood with no differences in overall appearance, size, fertility or behavior relative to control mice
• brain histology is normal at 12 weeks of age, suggesting that late disruption of brain-specific Trpm7 after E10.5 does not affect brain development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Small kidney, kidney cysts, and reduced number of glomeruli in Trpm7tm1Clph/Trpm7tm1Clph Tg(Pax3-cre)1Joe/0 mice
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• at P12, many large renal cysts are observed, unlike in control kidneys
• small cysts first emerge at P4; no cysts are observed at P2
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• proximal tubular cysts emerge at P4
• no cysts associated with connecting tubules, distal convoluted tubules, or collecting ducts are observed
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• at E18.5 and P12, very few glomeruli are observed, unlike in control kidneys
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• at E14.5 and E18.5, kidneys are smaller than those of controls
• at P12, kidneys are less than half the size of control kidneys
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• at E14.5, only spherical renal vesicles are present while comma- and S-shaped bodies are clearly absent, unlike in control kidneys
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• at E14.5, S-shaped bodies are absent
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• at E14.5, comma-shaped bodies are absent
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• at P2, eosinophilic acellulal material consistent with protein is present in the lumen of dilated renal tubules and the basement membrane is disrupted around dilated tubules
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• at P2, dilated tubules are observed in the renal cortex, unlike in control kidneys
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• mice exhibit progressive kidney failure
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• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region
• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk
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• at P2, pigment in hair follicles is reduced only in the lower trunk
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• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice
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• toluidine blue staining of P2 dorsal lumbar skin sections shows loss of pigment cells in the lower trunk relative to wild-type controls
• immunohistochemistry of P2 dorsal lumbar skin sections confirmed drastic loss of microphthalmia-associated transcription factor (MiTF)-positive or DCT-positive pigment cells in the lower trunk
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• at P2 and P12, mice exhibit loss of pigmentation only in the lower trunk
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• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region
• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk
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• at P2, pigment in hair follicles is reduced only in the lower trunk
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• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice
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• mice drag their hind legs in a kneeling posture
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• hind legs are paralyzed
• however, forelimbs appear normal
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• at P2, lumbar DRG shows loss of large-diameter DRG sensory neurons
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• at E18.5, lumbar dorsal root ganglion (DRG) shows normal gray/white matter distributions but smaller cross-sectional areas
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• at P12, many large renal cysts are observed, unlike in control kidneys
• small cysts first emerge at P4; no cysts are observed at P2
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• proximal tubular cysts emerge at P4
• no cysts associated with connecting tubules, distal convoluted tubules, or collecting ducts are observed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no viable embryos were found, no time of lethality was provided
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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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