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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr1tm5Jrt
targeted mutation 5, Janet Rossant
MGI:2153349
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr1tm5Jrt/Fgfr1tm5Jrt involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:2181571


Genotype
MGI:2181571
hm1
Allelic
Composition
Fgfr1tm5Jrt/Fgfr1tm5Jrt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm5Jrt mutation (0 available); any Fgfr1 mutation (223 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• not all mice survive to term

craniofacial
• fusion of the atlas to the occipital bones is common
• marked reduction in the second branchial arch

limbs/digits/tail
• posterior expansion of both 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 develop into a limb
• 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

skeleton
• fusion of the atlas to the occipital bones is common
• 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
• in all mice R1 is not attached to the sternum and in about half of the mice R2 in not attached to the sternum
• occasional posterior transformation of T7 to T8 (loss of attachment to the sternum)
• at P0, anterior transformations of C1, C2,C3, and C7 are seen with varying levels of penetrance
• penetrance and expressivity of anterior, but not posterior, transformations are enhanced compared to Fgfr1tm2Jrt homozygotes

embryo
• marked reduction in the second branchial arch
• severe posterior deletions extends into the lumbrosacrumlumbrosacral level
• however, hind limbs and occasional remnants of vertebral bodies can be observed
• anterior-posterior defects in lateral plate mesoderm patterning
• posterior expansion of both 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 develop into a limb
• expansion of the posterior neural fold at E9.5
• at E10.5, somites posterior to the hindlimb buds form but then appear to be degenerating at E12.5





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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
11/12/2024
MGI 6.24
The Jackson Laboratory