Phenotypes Associated with This Genotype

Genotype
MGI:3589666

• Allelic Composition: Gdf11^tm1Clf/Gdf11^tm1Clf
• Genetic Background: involves: 129X1/SvJ * CD-1

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

embryo

abnormal hindlimb bud morphology ( J:81451 )

• homozygotes display abnormal positioning of the hindlimb bud

mortality/aging

neonatal lethality, complete penetrance ( J:81451 )

• all homozygotes die within 24 hrs of birth

limbs/digits/tail

abnormal hindlimb bud morphology ( J:81451 )

• homozygotes display abnormal positioning of the hindlimb bud

decreased caudal vertebrae number ( J:81451 )

• homozygotes exhibit loss of caudal vertebrae

absent tail ( J:81451 )

• at E15.5, homozygotes show absence of tail

nervous system

abnormal neuron differentiation ( J:81451 )

• homozygotes display increased olfactory epithelium neurogenesis, as shown by a significant increase in proliferating, neurogenin-1-expressing immediate neuronal precursors, and a ~20% increase in Ncam1-expressing olfactory receptor neurons

abnormal olfactory sensory neuron morphology ( J:81451 )

• at E14.5, homozygotes show a 37% increase in proliferating immediate neuronal precursors within the olfactory epithelium; this increase is more pronounced in the middle cell layers (147%)

increased neuronal precursor cell number ( J:99244 )

absent amacrine cells ( J:99244 )

decreased retina photoreceptor cell number ( J:99244 )

increased retina ganglion cell number ( J:99244 )

• by E17.5, mutant retinas exhibit increased cell density in the ganglion cell layer (GCL); at P0, mutant GCLs contain ~50% more cells than wild-type GCLs

• excessive RGCs appear to differentiate normally, extending axons through the optic chiasm and tracts

• pulse labeling expts indicate that excessive RGCs accumulate as a result of prolonged production which occurs at the expense of amacrine and photoreceptor cells

• unlike the situation in the olfactory epithelium, mutant retinas display normal thickness as well as normal distribution and number of proliferating progenitor cells

abnormal optic nerve morphology ( J:99244 )

• homozygotes exhibit a 37% increase in cross-sectional areas of optic nerves; the optic chiasm and tracts are abnormally thick

renal/urinary system

abnormal kidney development ( J:81451 )

• at birth, homozygotes exhibit renal defects

skeleton

decreased caudal vertebrae number ( J:81451 )

• homozygotes exhibit loss of caudal vertebrae

absent sacral vertebrae ( J:81451 )

• at birth, all homozygotes display sacral agenesis

vertebral transformation ( J:81451 )

• homozygotes exhibit anterior transformations of vertebral segments

taste/olfaction

abnormal olfactory epithelium morphology ( J:81451 )

• homozygotes display a ~22% increase in thickness of the septal olfactory epithelium

abnormal olfactory sensory neuron morphology ( J:81451 )

• at E14.5, homozygotes show a 37% increase in proliferating immediate neuronal precursors within the olfactory epithelium; this increase is more pronounced in the middle cell layers (147%)

vision/eye

absent amacrine cells ( J:99244 )

decreased retina photoreceptor cell number ( J:99244 )

increased retina ganglion cell number ( J:99244 )

• by E17.5, mutant retinas exhibit increased cell density in the ganglion cell layer (GCL); at P0, mutant GCLs contain ~50% more cells than wild-type GCLs

• excessive RGCs appear to differentiate normally, extending axons through the optic chiasm and tracts

• pulse labeling expts indicate that excessive RGCs accumulate as a result of prolonged production which occurs at the expense of amacrine and photoreceptor cells

• unlike the situation in the olfactory epithelium, mutant retinas display normal thickness as well as normal distribution and number of proliferating progenitor cells

abnormal optic nerve morphology ( J:99244 )

• homozygotes exhibit a 37% increase in cross-sectional areas of optic nerves; the optic chiasm and tracts are abnormally thick

delayed optic fissure closure ( J:99244 )

• at E14.5, homozygotes show incomplete closure of the optic (choroid) fissure; in wild-type mice closure occurs at ~E12.5

• by E16.5, optic fissure closure is complete; subsequent formation of optic disc, optic nerve, and periocular tissue appears normal

absent retina inner plexiform layer ( J:99244 )

• by E17.5, the inner plexiform layer is not detectable

respiratory system

abnormal olfactory epithelium morphology ( J:81451 )

• homozygotes display a ~22% increase in thickness of the septal olfactory epithelium

abnormal olfactory sensory neuron morphology ( J:81451 )

• at E14.5, homozygotes show a 37% increase in proliferating immediate neuronal precursors within the olfactory epithelium; this increase is more pronounced in the middle cell layers (147%)

craniofacial

abnormal olfactory epithelium morphology ( J:81451 )

• homozygotes display a ~22% increase in thickness of the septal olfactory epithelium

abnormal olfactory sensory neuron morphology ( J:81451 )

• at E14.5, homozygotes show a 37% increase in proliferating immediate neuronal precursors within the olfactory epithelium; this increase is more pronounced in the middle cell layers (147%)

cellular

abnormal neuron differentiation ( J:81451 )

• homozygotes display increased olfactory epithelium neurogenesis, as shown by a significant increase in proliferating, neurogenin-1-expressing immediate neuronal precursors, and a ~20% increase in Ncam1-expressing olfactory receptor neurons

growth/size/body

abnormal olfactory epithelium morphology ( J:81451 )

• homozygotes display a ~22% increase in thickness of the septal olfactory epithelium

abnormal olfactory sensory neuron morphology ( J:81451 )

• at E14.5, homozygotes show a 37% increase in proliferating immediate neuronal precursors within the olfactory epithelium; this increase is more pronounced in the middle cell layers (147%)