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Allele Symbol Allele Name Allele ID |
Lef1tm1Rug targeted mutation 1, Rudolf Grosschedl MGI:1926601 |
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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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• dentate gyrus granule cells are absent but glial cells and interneurons are present in this region
• dentate gyrus is absent at E16.5, E18.5, and P0
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• abnormal appearance of the CA fields of the hippocampus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no homozygotes survive to weaning, with only 63% surviving the first week and only 5% surviving the second week after birth
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• the alveolar ridges are absent from both the mandible and the maxilla
• however, the overall bone structure of the jaws is relatively unaffected
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• no upper or lower incisor teeth are detected at P3
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• no molar teeth are detected at P3
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• tooth development is normally initiated but becomes arrested at the bud stage at E13
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• at P10, homozygotes lack both upper and lower incisors and molars
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• at P3, homozygotes display a pointed snout due to the absence of whiskers and associated dermal fat
• notably, the mandible and maxilla are structurally normal
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• homozygotes are significantly smaller than wild-type and heterozygous control mice
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• the alveolar ridges are absent from both the mandible and the maxilla
• however, the overall bone structure of the jaws is relatively unaffected
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• no upper or lower incisor teeth are detected at P3
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• no molar teeth are detected at P3
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• tooth development is normally initiated but becomes arrested at the bud stage at E13
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• at P10, homozygotes lack both upper and lower incisors and molars
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• at P3, homozygotes display a pointed snout due to the absence of whiskers and associated dermal fat
• notably, the mandible and maxilla are structurally normal
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• at P3, the skin of homozygotes lacks dermal-associated fat
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• at E13.5, homozygotes display a severely reduced number of rudimentary mammary buds relative to wild-type controls
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• newborn female homozygotes lack mammary glands
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• the alveolar ridges are absent from both the mandible and the maxilla
• however, the overall bone structure of the jaws is relatively unaffected
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• no upper or lower incisor teeth are detected at P3
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• no molar teeth are detected at P3
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• tooth development is normally initiated but becomes arrested at the bud stage at E13
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• at P10, homozygotes lack both upper and lower incisors and molars
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• at P10, homozygotes lack the mesencephalic nucleus of the trigeminal nerve, the only neural crest-derived neuronal populations
• however, primary sensory neurons and glial cells in the trigeminal ganglion, and all other neuronal populations in the PNS appear normal
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• homozygotes show absence of barrels in the primary somatosensory cortex, in the absence of other brain abnormalities
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• at P3, mutant hair follicles lack the brown pigment of wild-type follicles, corresponding to melanin granules
• however, both epidermal and dermal melanocytes are normally present, suggesting that absence of melanin may be secondary to the arrest in hair follicle development
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• peripheral retinal vasculature is delayed and vessel density is reduced compared to in wild-type retina
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• associated with reduced levels of cell death and reduced rate of entry into the cell cycle
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• peripheral retinal vasculature is delayed and vessel density is reduced compared to in wild-type retina
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• discontinuous and fragmented vessel indicate extensive vessel regression not observed in wild-type retina
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| N |
• despite expression in thymocytes and peripheral T cells, homozygotes show no obvious defects in lymphoid cell populations at birth
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• at P3, the skin of homozygotes lacks dermal-associated fat
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• at E13.5, homozygotes display a severely reduced number of rudimentary mammary buds relative to wild-type controls
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• newborn female homozygotes lack mammary glands
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• homozygotes lack body hair
• some rudimentary hair without pigmentation is first noted at ~P9, but is progressively lost after P12
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• at P3, mutant hair follicles fail to project as deeply into the dermis as wild-type follicles
• at P3, the mutant hair sheath is not fully differentiated
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• at P3, mutant hair follicles lack the brown pigment of wild-type follicles, corresponding to melanin granules
• however, both epidermal and dermal melanocytes are normally present, suggesting that absence of melanin may be secondary to the arrest in hair follicle development
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• homozygotes exhibit an arrest in hair follicle development at a stage corresponding to E17
• however, hair follicle formation is relatively normal at E14 and E16
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• at P3, nearly all mutant hair follicles present are short and rudimentary
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• at P3, the number of hair follicles is reduced to one-third of that found in wild-type mice
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• at P3, homozygotes lack whiskers
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• discontinuous and fragmented vessel indicate extensive vessel regression not observed in wild-type retina
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although an intact endometrial lining is observed at P3, endometrial gland buds fail to form by P5 unlike in wild-type controls
• no signs of gland formation are visible P7 or even P9
• mutant uteri lack cyclin D1 expression although cell proliferation is active, as shown by BrdU incorporation
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• female homozygotes do not develop endometrial glands
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• although an intact endometrial lining is observed at P3, endometrial gland buds fail to form by P5 unlike in wild-type controls
• no signs of gland formation are visible P7 or even P9
• mutant uteri lack cyclin D1 expression although cell proliferation is active, as shown by BrdU incorporation
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• female homozygotes do not develop endometrial glands
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes are found at normal frequencies at E6.5 and E9.5
• found in reduced numbers after E10.5
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• caudal defects seen at E9.5
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• limb bud defects seen at E9.5
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• forelimbs reduced in size at E9.5
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• no mesenchymal cells form under the ectoderm in the primitive streak region as occurs in controls
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• ectopic neural tubes form caudally in place of somites
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• abnormal somites anterior to the forelimb buds
• no caudal region somites
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• abnormal masses of cells form
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• limb bud defects seen at E9.5
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• forelimbs reduced in size at E9.5
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• ectopic neural tubes form caudally in place of somites
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• no mesenchymal cells form under the ectoderm in the primitive streak region as occurs in controls
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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 06/12/2024 MGI 6.13 |
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