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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr1tm1Jrt
targeted mutation 1, Janet Rossant
MGI:2153342
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr1tm1Jrt/Fgfr1tm1Jrt either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1) MGI:2181551
ht2
Fgfr1tm1Jrt/Fgfr1tm2Jrt involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:2181564
ht3
Fgfr1tm1Jrt/Fgfr1tm4Jrt involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:2181569
ht4
Fgfr1tm1Jrt/Fgfr1tm6.1Jrt involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:2181575


Genotype
MGI:2181551
hm1
Allelic
Composition
Fgfr1tm1Jrt/Fgfr1tm1Jrt
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jrt mutation (0 available); any Fgfr1 mutation (221 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes are resorbed by E9.5

growth/size/body
• at E7.5, most homozygotes appear developmentally retarded and malformed relative to wild-type embryos
• at E9.5, surviving homozygotes are severely retarded
• at E7.5, malformed mutant embryos are half the size of wild-type embryos
• at E8.5 and E9.5, all surviving embryos are clearly smaller than wild-type embryos
• at E8.5, the anterior head mesenchyme underlying the neural folds is reduced and loosely packed

embryo
• homozygotes display defects in morphogenetic gastrulation movements
• homozygotes display impaired mesodermal cell migration out of the posterior primitve streak
• mesodermal patterning is aberrant, although mesoderm differentiates into diverse mesodermal subtypes, as cofirmed by marker analysis
• at E8.5, homozygotes lack somites and fail to elongate along the anterior-posterior axis
• at E7.5, most homozygotes appear developmentally retarded and malformed relative to wild-type embryos
• at E9.5, surviving homozygotes are severely retarded
• at E7.5, malformed mutant embryos are half the size of wild-type embryos
• at E8.5 and E9.5, all surviving embryos are clearly smaller than wild-type embryos
• at E7.5, malformed mutant embryos exhibit shorter egg cylinders
• at E8.5, the head process is thickened and expanded across the medial-lateral axis
• axial mesoderm is significantly expanded across the medial-lateral axis at the expense of paraxial mesoderm
• paraxial mesoderm is reduced
• at E9.5, 2 of 3 surviving homozygotes show small, disorganized headfolds
• at E8.5, the anterior head mesenchyme underlying the neural folds is reduced and loosely packed
• at E8.5, less severely affected homozygotes display smaller and disorganized neural folds
• at E8.5, homozygotes with disorganized neural folds show abnormally broad anterior midline structures that divide the neural plate in half
• at E9.5, one less severely affected homozygote shows a kinked, wiggly neural tube
• at E7.5, both epiblast and mesodermal cells accumulate in the streak region, resulting in a thickened and kinked primitve streak
• by E8.5, all surviving embryos show a large accumulation of cells in the posterior streak
• however, gastrulation and initial formation of the primitive streak is unaffected
• by E8.5, all surviving embryos show a large accumulation of cells in the posterior streak
• at E9.5, surviving homozygotes show absence or severe disorganization of the primitive streak
• by E8.5 and E9.5, all surviving mutant embryos lack somites
• at E8.5, homozygotes display an abnormal allantois with a large accumulation of cells at its base
• at E8.5, abnormal closure of the ectoplacental cavity results in chorion defects (swollen vesicles)
• "ruffled" endoderm layer at E8.5
• little extraembryonic mesoderm found under the endoderm at E8.5
• at E8.5, blood islands are reduced in number
• ruffled visceral yolk sac

nervous system
• at E8.5, homozygotes with disorganized neural folds show abnormally broad anterior midline structures that divide the neural plate in half
• at E9.5, one less severely affected homozygote shows a kinked, wiggly neural tube
• at E9.5, an ectopic midline bulge of cells is found in the ventral midbrain region

cardiovascular system
• at E8.5, less severely affected homozygotes display abnormal heart tubes




Genotype
MGI:2181564
ht2
Allelic
Composition
Fgfr1tm1Jrt/Fgfr1tm2Jrt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jrt mutation (0 available); any Fgfr1 mutation (221 available)
Fgfr1tm2Jrt mutation (0 available); any Fgfr1 mutation (221 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• transheterozygotes that survive to term die neonatally
• only ~50% of transheterozygotes survive to term

craniofacial
• at P0, transheterozygotes show more severe defects in craniofacial patterning than Fgfr1tm2Jrt homozygotes

limbs/digits/tail
• at P0, transheterozygotes display more severe distal limb defects than Fgfr1tm2Jrt homozygotes
• at P0, transheterozygotes display loss of anterior digits, syn- and oligodactyly, and postaxial cartilage condensations
• occasional shortening of the tibia
• at P0, transheterozygotes have on average 9.8 caudal vertebrae versus 31 found in wild-type mice

skeleton
• occasional shortening of the tibia
• at P0, transheterozygotes show more severe defects in craniofacial patterning than Fgfr1tm2Jrt homozygotes
• at P0, transheterozygotes have on average 9.8 caudal vertebrae versus 31 found in wild-type mice
• 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
• at P0, 100% of transheterozygotes display rib fusions
• at P0, transheterozygotes display more severe vertebral transformations (predominantly to the anterior direction) than Fgfr1tm2Jrt homozygotes
• at P0, anterior transformations include: C1 to occipital (100%); C2 to C1 (100%); C3 to C2 (40%); C7 to C6 (40%)
• at P0, anterior transformations involve L1 to T13 (100%)
• at P0, anterior transformations include: S1 to L6 (75%); S2 to S1 (75%)

embryo
• at P0, transheterozygotes display more severe posterior truncations than Fgfr1tm2Jrt homozygotes




Genotype
MGI:2181569
ht3
Allelic
Composition
Fgfr1tm1Jrt/Fgfr1tm4Jrt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jrt mutation (0 available); any Fgfr1 mutation (221 available)
Fgfr1tm4Jrt mutation (0 available); any Fgfr1 mutation (221 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no newborns are recovered at P0

limbs/digits/tail




Genotype
MGI:2181575
ht4
Allelic
Composition
Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jrt mutation (0 available); any Fgfr1 mutation (221 available)
Fgfr1tm6.1Jrt mutation (0 available); any Fgfr1 mutation (221 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• rib (27%) fusion occurs in newborn mice
• vertebral transformations to posterior direction
• however, the number of caudal vertebrae is not reduced
• transformations of T1 to T2 (11%), T12 to L1 (44%), and T13 to L1 (11%)
• transformations of C5 to C6 (22%), C6 to C7 (11%), and C7 to T1 (44%)
• transformations of L5 to S1 (11%) and L6 to S1 (55%)
• transformations of S1 to S2 (44%) and S3 to S4 (28%)





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last database update
08/02/2024
MGI 6.24
The Jackson Laboratory