Analysis Tools|
Allele Symbol Allele Name Allele ID |
Smad4tm1Rob targeted mutation 1, Elizabeth J Robertson MGI:3624262 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 8 weeks of age 3 of 8 mice had died
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| N |
• at E16.5 kidneys appear morphologically similar to control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• superovulated mutant females show a significant reduction in numbers of oocytes collected from the oviducts compared to controls
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• superovulated mutant females show a significant reduction in numbers of oocytes collected from the oviducts compared to controls
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• ovaries of knockout animals often contain small follicles with luteinizing cells surrounding either oocytes or oocyte remnants
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• some secondary stage follicles show oocytes without associated granulosa cells
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• in knockout mice, there are fewer large antral follicles
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• in knockout females, large follicle-like structures enclosing a trapped oocyte are observed
• in superovulated females, some follicles show oocytes lacking cumulus cells
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• in superovualated females, half as many intact cumulus-oocyte complexes are recovered from large antral follicles after 44 hours compared to controls
• cumulus-oocyte complexes isolated from mutant females show reduced or absent cumulus expansion when cultured in the presence of serum and FSH
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• cumulus-oocyte complexes isolated from mutant females may show absent cumulus expansion when cultured in the presence of serum and FSH
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• some secondary stage follicles show oocytes without associated granulosa cells
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• in knockout mice, there are more preantral follicles
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• mutant females ovulate about half as much as wild-type
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• null mice have an average of 1.3 pups per litter over a 6-month period, compared to 10.4 pups/litter for control Smad4tm1.1Rob/Smad4tm1Rob animals which is not different from wild-type litter size
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• at 3 months of age, 25% of breeding females are infertile; by 6 months of age, 50% are infertile
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• ovaries of knockout animals often contain small follicles with luteinizing cells surrounding either oocytes or oocyte remnants
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• some secondary stage follicles show oocytes without associated granulosa cells
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• in knockout mice, there are fewer large antral follicles
|
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• in knockout females, large follicle-like structures enclosing a trapped oocyte are observed
• in superovulated females, some follicles show oocytes lacking cumulus cells
|
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• in superovualated females, half as many intact cumulus-oocyte complexes are recovered from large antral follicles after 44 hours compared to controls
• cumulus-oocyte complexes isolated from mutant females show reduced or absent cumulus expansion when cultured in the presence of serum and FSH
|
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• cumulus-oocyte complexes isolated from mutant females may show absent cumulus expansion when cultured in the presence of serum and FSH
|
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• some secondary stage follicles show oocytes without associated granulosa cells
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• in knockout mice, there are more preantral follicles
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 1 week of age no pups are found
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• only 7% of pups at P1 are homozygous rather than the expected 25%
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• sporadic cysts at E17.5 sometimes occurring in Bowman's space
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• the number of collecting ducts is reduced to 8 +/- 1 and 9 +/- 2 compared to 20 +/- 2 and 28 +/- 2 in wild-type mice at E14.5 and E16.5, respectively
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• abnormal clustering of the glomeruli
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• at E12.0, E14.5, and E16.5 increased cell death is seen in thickened areas of the mesenchyme at the periphery of the kidney; however around the collecting duct tips cell death is similar to wild-type
• at E12.5 expression patterns indicate that few foci of nephrogenic mesenchyme condensations are formed, the stromal cell population is increased, the number of epithelial structures is reduced, and the normal segregation of stoma and mesenchyme is incomplete
• at E12.5 the cortical cell layer is thicker than in wild-type and increased cell death is seen in the cortical regions
• at E14.5 the cell layer between the nephrogenic mesenchyme and the kidney capsule is thicker than in wild-type
• at E14.5 and E16.5 the tips of the collecting ducts are surrounded by variably reduced amounts of nephrogenic mesenchyme with about 50% lacking any surrounding nephrogenic mesenchyme
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• about half the volume of wild-type kidneys at E17.5
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• at E17.5
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• sporadic cysts at E17.5 sometimes occurring in Bowman's space
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E9.5, mutant embryos show significant degeneration; no mutants are recovered at E10
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• at E8.5, mutants shave a flattened ventral surface with no visible fore- or hindgut formation and caudally displaced bulbous neural tissue
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• after E7, the anterior-posterior axis is broadened
• at E7.5 and early head fold stages, embryo adopts and elongated and distorted 'boot-shaped' morphology; mutants show rudimentary anterior neural development with no visible headfolds and recognizable foregut invagination
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• mutant embryos exhibit abnormal rhombomere morphology
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• somites form, but are fused across the midline
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• all mutants show an allantois-like outgrowth of variable size and in 70% of the cases associates with the stalk-like chorionic ectoderm while in the remaining embryos, the allantois terminates blindly in the exocoelomic cavity
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• mutant embryos exhibit abnormal hindbrain development
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• mutant embryos exhibit abnormal rhombomere morphology
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• most embryos lack primordial germ cells which form at the base of the primordial allantois
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• no visible formation of foregut at E8.5
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• no visible formation of hindgut at E8.5
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• most embryos lack primordial germ cells which form at the base of the primordial allantois
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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 12/10/2024 MGI 6.24 |
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