Phenotypes Associated with This Genotype

Genotype
MGI:5515421

• Allelic Composition: Tg(Eno2-Bmp4)3Jake/0
• Genetic Background: involves: BALB/c * C57BL/6

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

cellular

abnormal radial glial cell morphology ( J:82446 )

• differentiation of radial glia into astrocytes is accelerated

nervous system

abnormal radial glial cell morphology ( J:82446 )

• differentiation of radial glia into astrocytes is accelerated

increased astrocyte number ( J:82446 )

• 40% increase in the number of astrocytes in the brain as indicated by an in increase in the number of GFAP+ astrocytes, an increase in the number of S100+ astrocytes, and an increase in the number of Yb subunit of glutathione-S-transferase

• the increase of GFAP+ astrocytes is most prominent in the neocortex, although increases are seen in the hippocampus, striatum, and hindbrain

• supernumerary GFAP+ astrocytes are clustered in the infragranular layers of the neocortex

• however, astrocytes are similar in size and shape to wild-type and no reactive gliosis is seen

decreased oligodendrocyte number ( J:82446 )

• decrease in the number of oligodendrocytes in the adult neocortex

• 11.3% decrease of glutathione-S-transferase Yp subunit expressing oligodendrocytes

• 26% decrease in the number of oligodendrocytes in the centrum semiovale at P10 and a 16.7% decrease in adults

• 19.3% decrease in the number of oligodendrocytes in the perihippocampal white matter

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:93682 )

• severely affected mutants become immobile

limb grasping ( J:93682 )

• when lifted by the tail, the hind limbs of young mutants appear stiff and cannot fully extend or move freely

abnormal gait ( J:93682 )

• at about 2 months of age, mutants begin to show an uneven gait, especially with the hind limbs

muscle

abnormal muscle morphology ( J:93682 )

• swelling of the hind limb muscles with enlargement of the hind limb circumference

• some mutants exhibit transient infiltration of CD45+ mononuclear cells into intramuscular regions that is no longer seen after heterotopic ossification develops

abnormal muscle fiber morphology ( J:93682 )

• muscle fiber degradation

skeleton

kyphosis ( J:93682 )

• in adults

scoliosis ( J:93682 )

• in adults

kyphoscoliosis ( J:93682 )

• in adults

abnormal trabecular bone morphology ( J:93682 )

• trabeculae of heterotopic bones is much thinner than in normal cancellous bones

ectopic bone ( J:93682 )

• mice develop postnatally severe heterotopic bones; heterotopic endochondral ossification occurs by the process of prenatal endochondral bone formation but in inappropriate places

• heterotopic bone formation is progressive (takes about a year), starting in the hind limbs, spreading dorsally to paravertebral regions and ventrally to the abdominal wall, and finally spreading to the anterior trunk, forelimbs, and skull

• osseous bridges develop in multiple locations, such as the pelvis and jaws

• in advanced cases, the osseous bridges develop beyond existing joints, such as between fore and hind limbs

• heterotopic bones show characteristics of trabecular bones

• however, normal skeletogenesis is not disturbed in young mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fibrodysplasia ossificans progressiva		DOID:13374	OMIM:135100	J:93682