Phenotypes Associated with This Genotype

Genotype
MGI:2174904

• Allelic Composition: Fgfr1^tm1Led/Fgfr1^tm1Led
• Genetic Background: involves: 129S4/SvJae * NIH Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:22118 )

• at later developmental stages up to E12.5, abnormal embryos comprised approximately one quarter of the total number

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:22118 )

• by E6.5, 15% of deciduas contained abnormal or partially resorbed embryos

embryo

abnormal developmental patterning ( J:22118 )

• some embryos at E9.5 exhibit little or no axial organization and resemble a flattened disk

abnormal mesoderm development ( J:22118 )

• little mesodermal differentiation was noted in embryos developing to E8.5

• mesodermally-derived axial structures such as a neural tube, somites and limb buds were not seen at later stages

abnormal rostral-caudal axis patterning ( J:22118 )

• at the anterior pole, some embryos exhibited head fold structures, although they were abnormal in size and morphology; occasionally otocysts and branchial arches were seen

abnormal rostral-caudal body axis extension ( J:22118 )

• at E9.5, many embryos exhibited little posterior extension of the embryonic axis, although a few did develop abnormal trunk and tail regions at later stages

embryonic growth retardation ( J:22118 )

• developmental retardation was noted at all stages

decreased embryo size ( J:22118 )

• embryos appeared smaller in vivo, and cultured blastocysts exhibit smaller blastocyst outgrowths

abnormal egg cylinder morphology ( J:22118 )

• at E7.5, embryos exhibited a small egg cylinder, with an unusual invagination at the circumferential constriction the divides the egg cylinder between the embryonic and extraembryonic ectoderm

absent limb buds ( J:22118 )

abnormal neural tube morphology ( J:22118 )

abnormal primitive streak morphology ( J:22118 )

• in embryos developing to E8.5, a thickened primitive streak with limited growth of extraembryonic mesoderm was seen

absent somites ( J:22118 )

abnormal extraembryonic tissue morphology ( J:22118 )

• some mutant embryos at E7.5 had an extraembryonic portion that was larger than the embryonic portion, resulting in a comma-like shape

small proamniotic cavity ( J:22118 )

• at E6.5, a small proamniotic cavity was noted

excessive folding of visceral yolk sac ( J:22118 )

• abnormal surface, described as bumpy and ruffled

small visceral yolk sac ( J:22118 )

• the visceral yolk sac of embryos developing to E9.5 was large compared to the embryonic portion, but small compared to wild-type controls

growth/size/body

embryonic growth retardation ( J:22118 )

• developmental retardation was noted at all stages

decreased embryo size ( J:22118 )

• embryos appeared smaller in vivo, and cultured blastocysts exhibit smaller blastocyst outgrowths

limbs/digits/tail

absent limb buds ( J:22118 )

nervous system

abnormal neural tube morphology ( J:22118 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pfeiffer syndrome		DOID:14705	OMIM:101600	J:22118