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Allele Symbol Allele Name Allele ID |
Fgfr1tm2Jrt targeted mutation 2, Janet Rossant MGI:2153343 |
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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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• 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 die neonatally
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• homozygotes display a significant reduction of the second branchial arch, leading to craniofacial defects
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• at E9.5, homozygotes show abnormal development of the A-P axis
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• at E9.5, homozygotes display posterior truncations
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• at E9.5, homozygotes show defects in craniofacial patterning
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• homozygotes display a significant reduction of the second branchial arch, leading to craniofacial defects
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• at P0, homozygotes show delayed ossification of distal phalanges
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• at E9.5, homozygotes show defects in craniofacial patterning
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• at P0, homozygotes have 25 caudal vertebrae versus 31 found in wild-type mice
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• at P0, 32% of homozygotes show no attachment of the first rib (R1) to the sternum
• at P0, 59% of homozygotes show no attachment of R7 to the sternum
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• at the lumbrosacral level, P0 homozygotes frequently have extra ribs on L1
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• at P0, 47% of homozygotes display rib fusions
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• at P0, 32% of homozygotes display C2 malformations
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• at E9.5, homozygotes display vertebral transformations predominantly to anterior direction
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• at P0, a posterior transformation of T7 to T8 (not attaching the sternum) is common
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• at P0, anterior transformations include: C1 to occipital (12%); C2 to C1 (9%); C7 to C6 (9%)
• at P0, posterior transformations include: C5 to C6 (12%); C7 to T1 (9%)
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• at P0, anterior transformations include: L1 to T13 (41%)
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• at P0, anterior transformations include: S1 to L6 (9%); S2 to S1 (12%)
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• at E9.5, homozygotes display distal limb defects
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• at P0, homozygotes display loss of anterior digits, syn- and oligodactyly, and postaxial cartilage condensations
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• at P0, homozygotes show delayed ossification of distal phalanges
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• at P0, homozygotes have 25 caudal vertebrae versus 31 found in wild-type mice
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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
(J:78879)
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• variably affected
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• variable deficiencies
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• variable deficiencies
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• the gonial bone is reduced or absent
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• variably affected
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• the gonial bone is reduced or absent
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• reduction in the size of the pinna
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• at birth, the three rows of OHCs that normally extend through the cochlear duct are mildly disrupted
• in contrast, the vestibular sensory epithelium remains unchanged
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• at birth, homozygotes show a mild disruption of the organ of Corti
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• at birth, the third OHC row is absent throughout the length of the cochlear duct
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• reduced or absent
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• reduced or absent
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• neural crest cells that accumulate proximal to the second branchial arch display increased apoptosis
• however, no abundant cell death occurs in the second arch
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• at birth, the third OHC row is absent throughout the length of the cochlear duct
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• in all cases, the proximal styloid process is absent
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• posterior part is malformed
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• flattened in 80% of mice, correlates with presence of a cleft palate
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• malformation of the retrotympanic process
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• lesser horns point laterally in 80% of mice, correlates with presence of a cleft palate
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• variably affected
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• variable deficiencies
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• variable deficiencies
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• the gonial bone is reduced or absent
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• variably affected
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• the gonial bone is reduced or absent
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• open palatine shelf in 80% of mice
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• proximally reduced in size
• at E10.5, the second arch is barely detectable with the distal portion often present but not connected to the proximal portion
• however, the first and third arches appear relatively normal
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• open palatine shelf in 80% of mice
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• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5
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• the tongue remains between the palatal shelves at E16.5
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• reduction in the size of the pinna
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• open palatine shelf in 80% of mice
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• open palatine shelf in 80% of mice
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• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5
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• the tongue remains between the palatal shelves at E16.5
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• neural crest cells accumulate proximal to the second branchial arch but fail to enter
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• proximally reduced in size
• at E10.5, the second arch is barely detectable with the distal portion often present but not connected to the proximal portion
• however, the first and third arches appear relatively normal
|
|
• neural crest cells that accumulate proximal to the second branchial arch display increased apoptosis
• however, no abundant cell death occurs in the second arch
|
|
• in all cases, the proximal styloid process is absent
|
|
• posterior part is malformed
|
|
• flattened in 80% of mice, correlates with presence of a cleft palate
|
|
• malformation of the retrotympanic process
|
|
• lesser horns point laterally in 80% of mice, correlates with presence of a cleft palate
|
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• variably affected
|
|
• variable deficiencies
|
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• variable deficiencies
|
|
• the gonial bone is reduced or absent
|
|
• variably affected
|
|
• the gonial bone is reduced or absent
|
|
• neural crest cells accumulate proximal to the second branchial arch but fail to enter
|
|
• open palatine shelf in 80% of mice
|
|
• open palatine shelf in 80% of mice
|
|
• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5
|
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• the tongue remains between the palatal shelves at E16.5
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• reduction in the size of the pinna
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• transheterozygotes that survive to term die neonatally
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• only ~50% of transheterozygotes survive to term
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• at P0, transheterozygotes show more severe defects in craniofacial patterning than Fgfr1tm2Jrt homozygotes
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• at P0, transheterozygotes display more severe distal limb defects than Fgfr1tm2Jrt homozygotes
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• at P0, transheterozygotes display loss of anterior digits, syn- and oligodactyly, and postaxial cartilage condensations
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• occasional shortening of the tibia
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• at P0, transheterozygotes have on average 9.8 caudal vertebrae versus 31 found in wild-type mice
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• occasional shortening of the tibia
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• at P0, transheterozygotes show more severe defects in craniofacial patterning than Fgfr1tm2Jrt homozygotes
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• at P0, transheterozygotes have on average 9.8 caudal vertebrae versus 31 found in wild-type mice
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• at P0, 100% of transheterozygotes show no attachment of the first rib (R1) to the sternum
• at P0, 40% of transheterozygotes show no attachment of ribs 1 and 7 (R1 and R7) to the sternum
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• at P0, 100% of transheterozygotes display rib fusions
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• at P0, transheterozygotes display more severe vertebral transformations (predominantly to the anterior direction) than Fgfr1tm2Jrt homozygotes
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• at P0, anterior transformations include: C1 to occipital (100%); C2 to C1 (100%); C3 to C2 (40%); C7 to C6 (40%)
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• at P0, anterior transformations involve L1 to T13 (100%)
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• at P0, anterior transformations include: S1 to L6 (75%); S2 to S1 (75%)
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• at P0, transheterozygotes display more severe posterior truncations than Fgfr1tm2Jrt homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the palate is closed, unlike in mice homozygous for Fgfr1tm2Jrt alone
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• posterior part are always affected
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• flattened
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• posterior part are always affected
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• variable deficiencies
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• variable deficiencies
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• reduced gonial bone
|
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• disruption in second branchial arch development is similar to that in Fgfr1tm2Jrt homozygotes
|
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• variable deficiencies
|
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• variable deficiencies
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• reduced gonial bone
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• reduced
|
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• posterior part are always affected
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• flattened
|
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• posterior part are always affected
|
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• variable deficiencies
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• variable deficiencies
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• reduced gonial bone
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• disruption in second branchial arch development is similar to that in Fgfr1tm2Jrt homozygotes
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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 04/16/2024 MGI 6.23 |
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