TABLE 6-5 Phenotypes of Mouse Mutants Lacking Components of the Receptor Tyrosine Kinase Pathway

Signaling Component

Time of Death

Affected Tissues and Organs

Phenotype

Human Syndrome or Diseasea

References

Signals

 

FGF2

Viable

Brain, skin

Delayed wound healing, lower neuronal density

 

Ortega et al. 1998

FGF3

Neonatal

Tail, inner ear

Developmental defects

 

Mansour 1994

FGF4

Early post-implantation

Inner cell mass

Growth failure after implantation

 

Feldman et al. 1995

FGF5

Viable

Hair follicle

Continuous hair growth

Hypertrichosis universalisb

Hebert et al. 1994

FGF6

Viable

Muscle

Defective muscle regeneration

 

Floss et al. 1997

FGF7

Viable

Keratinocyte and hair follicle

Rough coat

 

Guo et al. 1996

FGF8

Gastrulation

Mesoderm

No heart and somites

 

Meyers et al. 1998

GDNF

Neonatal

Kidney, neural crest

Renal agensis, enteric nervous system defects, neoplasia

Hirschprung’s disease, multiple endocrine

Pichel et al. 1996; Sanchez et al. 1996; Moore et al. 1996

HGF

Mid-gestation

Skeletal muscle, liver

No muscles, small liver

 

Schmidt et al. 1995

IGF1

Reduced, some neonatal deathc

Organs, muscle, bone

Severe growth deficiency

Dwarfism; neoplasiab

Powell-Braxton et al. 1993; Liu et al. 1993

IGFII

Viable

Fetus and placenta

Severe growth deficiency

Beckwith-Wiedemann syndrome

DeChiara et al. 1990

NGF

Neonatal

Nervous system

Lack of sensory and sympathetic neurons

 

Crowley et al. 1994

PDGFA

Mid-gestation or neonatal

Lung, alveolar, myofibroblasts

Emphysema

 

Bostrom et al. 1996



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