TABLE 6-4 Survey of Phenotypes of Mouse Mutants Lacking Components of Any of Several Signaling Pathways

Signaling Component

Viability of Null Mutant

Phenotype of Null Mutant

References

Wnt pathway

 

WNT-1

Adulthood

No midbrain, cerebellum, and rhombomere 1; behavioral deficits

McMahon et al. 1992

Axin

Early lethal (day 8-10)

Twinning

Vasicek et al. 1997; Zeng et al. 1997

Transforming growth factor β pathway

 

TGFβ 1

Adulthood

Immune defects, inflammation

McCartney-Francis et al. 1997

TGFβ 2

Perinatal death

Defects of heart, lung, spine, limb, and craniofacial and spinal regions

Sanford et al. 1997

GDF5

Adulthood

Fused skeletal elements in limbs, one-third of joints missing; like brachypodism mutant.

Storm and Kingsley 1996

BMP5

Adulthood

Thin axial bones; abnormal lung, liver, ureter, and bladder; like a short ear mutant

Mikic et al. 1996

BMP7

Adulthood

Defects in eye and kidney; skeletal abnormalities; polydactyly of hindlimbs

Dudley and Robertson 1997

Noggin

Juvenile

Bone hyperplasia, joints not formed; neural tube and somite defects

Brunet et al. 1998

Hedgehog pathway

 

Sonic Hedgehog (SHH)

Perinatal death

Cyclopia, defects of spinal cord, axial skeleton, and limbs

Chiang et al 1996

Patched receptor

Homozygotes, early lethality

Open neural tube

Goodrich et al. 1997

 

Heterozygotes, adulthood

Rhabdomysarcomas, hindlimb defects, large size. Like Gorlin syndrome in humans.

Hahn et al. 1998

Notch pathway

 

Notch 1

Perinatal death

Disordered somites. Like Danforth short tail mutation?

Swiatek et al. 1994; Conlon et al. 1995

Delta (DII1)

Perinatal death

Disordered somites

Hrabe De Angelis et al. 1997



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