Analysis Tools|
Allele Symbol Allele Name Allele ID |
mdac recessive modifier of Dac MGI:3027244 |
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| Summary |
6 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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• affects particularly the three middle digits, on each foot
• often the metatarsal and metacarpal bones are partially or completely missing or fused; the forefeet are more severely affected than the hindfeet
• the defects are clearly recognizable in 15-day embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| split hand-foot malformation 3 | DOID:0090025 |
OMIM:246560 |
J:133888 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• particularly the three middle digits, on each foot
• often the metatarsal and metacarpal bones are partially or completely missing or fused; the forefeet are more severely affected than the hindfeet
• the defects are clearly recognizable in 15-day embryos
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| split hand-foot malformation 3 | DOID:0090025 |
OMIM:246560 |
J:29220 , J:133888 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the majority of homozygotes on this background die at birth
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• at embryonic day 18.5 only the posterior bones of the autopod remain and these are sometimes found to be dysmorphic, and some homozygotes show a reduction in the distal radius of the autopods
• the overall size of the hand plate is reduced at embryonic day 12.5, to a greater degree than in heterozygotes
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• at embryonic day 18.5 homozygotes have only one posterior digit, which is similar in shape and size to digit 5 in wild-type mice
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• premature ossification of the talus is found in some homozygotes at embryonic day 18.5
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• at embryonic day 13.5 the distal radius and tibia blastemas appear shortened
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• at embryonic day 10.5 the apical ectrodermal ridge appears normal by scanning electron microscopy, but at day 11.5 most of the apical ectodermal ridge has degenerated leaving only the posterior region intact and this comparative reduction in size is due to diminished proliferation of apical ectodermal ridge cells at embryonic day 10.5 and not apoptosis
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• disruption of the formation of the hand plate at embryonic day 11.5, apparently prior to chondrogenesis, and reduction in the size of the hand and foot plates
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• premature ossification of the talus is found in some homozygotes at embryonic day 18.5
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• at embryonic day 10.5 the apical ectrodermal ridge appears normal by scanning electron microscopy, but at day 11.5 most of the apical ectodermal ridge has degenerated leaving only the posterior region intact and this comparative reduction in size is due to diminished proliferation of apical ectodermal ridge cells at embryonic day 10.5 and not apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although morphologically normal by scanning electron microscopy at embryonic day 10.5, by embryonic day 11.5 the apical ectodermal ridge in limbs of heterozygotes shows sporadic degeneration
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• the overall size of the hand plate is reduced at embryonic day 12.5
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• bone fusion between digits 4 and 5 at the first phalange is generally observed
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• digits 2 and 3 are commonly missing from one to four feet, with digits 1, 4 and 5 remaining and digits 4 and 5 fused at the first phalange
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• at embryonic day 13.5 there is a reduction in the formation of the central digit blastemas and an altered pattern of chondrogenesis of carpal and tarsal elements
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• bone fusion between digits 4 and 5 at the first phalange is generally observed
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• although morphologically normal by scanning electron microscopy at embryonic day 10.5, by embryonic day 11.5 the apical ectodermal ridge in limbs of heterozygotes shows sporadic degeneration
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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 10/29/2024 MGI 6.24 |
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