Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gli3tm1Urt targeted mutation 1, Ulrich Ruther MGI:2182576 |
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| Summary |
5 genotypes
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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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• homozygotes die within 12-18 hours after birth
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• the two palate shelves are present but show a delayed mineralization
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• embryos are retarded in development between E10.5 and E12.5, however at later time points, no differences in size are observed
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• embryos are retarded in development between E10.5 and E12.5, however at later time points, no differences in size are observed
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• the two palate shelves are present but show a delayed mineralization
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• imperforate anus
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• exhibit dilation of parts of the intestine
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• the colon terminates in a blind dilation that is not fused to the surface ectoderm at E15.5
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• epiglottis is absent at E15.5
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• the posterior basisphenoid bone, which is the hypophyseal cartilage, surrounding the pituitary, is misshapen and reduced in size, and a hole in its center is evident
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• newborns have a slightly enlarged skull
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• the two palate shelves are present but show a delayed mineralization
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• most severe bending is in the tibia
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• at E16.5, the tibia is significantly shorter than in wild-type controls
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• all mutants show different degrees of bilateral and anterior bending of long bones
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• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx
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• epiglottis is absent at E15.5
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• newborns show a curvature of the spine
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• advanced mineralization in the sclerotome-derived vertebrae but not throughout the vertebral column
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• a fusion of neighboring vertebrae in neonates is apparent
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• delay in mineralization of the two palate shelves and in the lateral mesoderm-derived skeletal elements of the autopod
• advanced mineralization in the sclerotome-derived vertebrae but not throughout the vertebral column
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• at E16.5, forelimb autopods lack ossification
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• at E16.5, limb phenotypes are significantly milder than those observed in Gli3tm3.1Blnw/Gli3tm3.1Blnw Tg(Prrx1-cre)1Cjt/0 mice
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• exhibit a central/insertional polydactyly in the autopod that is seen as early as E14.5; position of the additional digit varies, in about half, the extra digit is located in the same plane as the remaining digits, whereas in the other half, it is localized ventral of digit 3
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• exhibit soft tissue syndactyly at E14.5
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• at E16.5, forelimb autopods exhibit an additional fused digit
• however, both forelimb and hindlimb digit patterning are largely normal
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• exhibit a reduced number of apoptotic cells in the interdigital web
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• most severe bending is in the tibia
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• at E16.5, the tibia is significantly shorter than in wild-type controls
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• all mutants show different degrees of bilateral and anterior bending of long bones
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• exhibit a proximo-distal shortening of the fore- and hindlimbs as early as E14.5
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• remaining kidney exhibits abnormalities
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• absence of one kidney combined with phenotypic abnormalities in the remaining kidney
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• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx
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• epiglottis is absent at E15.5
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• the posterior basisphenoid bone, which is the hypophyseal cartilage, surrounding the pituitary, is misshapen and reduced in size, and a hole in its center is evident
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• newborns have a slightly enlarged skull
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• the two palate shelves are present but show a delayed mineralization
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• nails are dysplastic at E14.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pallister-Hall syndrome | DOID:9248 |
OMIM:146510 |
J:76496 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: 3% of heterozygotes on a mixed 129P2/OlaHsd and C57BL/6 background exhibit a postaxial extra digit on the forelimbs, while on a coisogenic 129P2/OlaHsd background, 6% exhibit the extra digit; the digit is not well formed and frequently occurs in the form of a unilateral skin tag
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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 |
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 11/19/2024 MGI 6.24 |
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