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Allele Symbol Allele Name Allele ID |
Fgfr1tm6Jrt targeted mutation 6, Janet Rossant MGI:2153351 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• partial deletions of the inferior colliculi of the midbrain are seen in newborns
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• defects in the midline vermis are seen in newborns
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes that survive to term die neonatally
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• not all homozygotes survive to term
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• a number of homozygotes are found dead or resorbed at E8.5-E11.5
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• homozygotes exhibit defects in craniofacial patterning
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• fusion of the atlas to the occipital bones is common
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• marked reduction in the second branchial arch
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• homozygotes display distal limb defects
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• posterior expansion of fore- and hindlimb buds at E9.5 and E10.5
• widened buds split into up to 3 extra buds but these extra buds appear to degenerate leaving only one to developn into a limb
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• at P0, 5 +/- 9.4 caudal vertebrae are present compared to 31 +/- 0.9 in wild-type mice
• some remnant vertebrae bodies are seen posterior to the lumbrosacral truncation
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• homozygotes exhibit defects in craniofacial patterning
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• fusion of the atlas to the occipital bones is common
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• at P0, 5 +/- 9.4 caudal vertebrae are present compared to 31 +/- 0.9 in wild-type mice
• some remnant vertebrae bodies are seen posterior to the lumbrosacral truncation
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• in all mice R1 is not attached to the sternum and in about half of the mice R2 in not attached to the sternum
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• at P0, homozygotes display severe vertebral transformations (predominantly in the anterior direction)
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• occasional posterior transformation of T7 to T8 (loss of attachment to the sternum)
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• penetrance and expressivity of anterior, but not posterior, transformations are enhanced compared to Fgfr1tm2Jrt homozygotes
• at P0, anterior transformations of C1, C2,C3, and C7 are seen with varying levels of penetrance
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• marked reduction in the second branchial arch
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• severe posterior deletions extends into the lumbrosacrumlumbrosacral level
• however, hind limbs and occasional remnants of vertebral bodies can be observed
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• anterior-posterior defects in lateral plate mesoderm patterning
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• posterior expansion of fore- and hindlimb buds at E9.5 and E10.5
• widened buds split into up to 3 extra buds but these extra buds appear to degenerate leaving only one to developn into a limb
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• expansion of the posterior neural fold at E8.5
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• at E10.5, somites posterior to the hindlimb buds form but then appear to be degenerating at E10-E11.5
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• reduction in the anterior somite size
• however, differentiation of anterior somite is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes die within 24 hrs after birth
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• at birth, the three rows of OHCs are disrupted in the lower half of the cochlea, while the sensory epithelium of the upper cochlear half is arranged in patches of variable size rather than as continuous rows
• in the upper cochlear half, the gaps between sensory patches show no signs of differentiation of hair cells or supporting cells
• in contrast, the vestibular sensory epithelium remains unchanged
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• at E18.5, homozygotes display variable numbers of OHCs and frequently doublet IHCs, with many HCs appearing shorter than normal
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• at E16.5, homozygotes display no molecular signs of HC specification or differentiation in the gap regions found between sensory patches
• however, the remaining HCs in the sensory patches undergo normal differentiation
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• at birth, the third OHC row is absent in the lower half of the cochlea
• in the upper cochlear half, the gaps between the sensory patches display no signs of OHC differentiation
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• at birth, the sensory patches found in the upper cochlear half frequently show doublet IHCs instead of a single continuous IHC row
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• at birth, the sensory patches found in the upper cochlear half frequently show an accumulation of disorientated IHCs at the edges
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• at birth, the sensory patches found in the upper cochlear half frequently show no signs of differentiation of supporting cells
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• at E18.5, homozygotes display variable numbers of OHCs and frequently doublet IHCs, with many HCs appearing shorter than normal
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• at E16.5, homozygotes display no molecular signs of HC specification or differentiation in the gap regions found between sensory patches
• however, the remaining HCs in the sensory patches undergo normal differentiation
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• at birth, the third OHC row is absent in the lower half of the cochlea
• in the upper cochlear half, the gaps between the sensory patches display no signs of OHC differentiation
|
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• at birth, the sensory patches found in the upper cochlear half frequently show doublet IHCs instead of a single continuous IHC row
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• at birth, the sensory patches found in the upper cochlear half frequently show an accumulation of disorientated IHCs at the edges
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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 04/23/2024 MGI 6.23 |
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