Signaling Component

Time of Death

Affected Tissues and Organs

Phenotype

Human Syndrome or Diseasea

References

LIN12

Mid-gestation

Somites

Somitogenesis delayed/disorganized

 

Conlon et al. 1995

NGFR

Viable

Nervous system

Defective sensory neurons

 

Lee et al. 1992

NTRK1

Neonatal

Central nervous system (CNS)

Neuropathies

Cancer, congenital neuropathy with anhidrosis

Smeyne et al. 1994

PDGFRA

Mid-gestation

Skeleton, neural crest

Spina bifida oculta and other skeletal abnormalities, increased neural crest apoptosis

 

Soriano 1997; Payne et al. 1997

RET

Perinatal

Kidney, neural crest

Renal agenesis, enteric nervous system defects

Hirschprung’s disease, multiple endocrine neoplasia

Schuchardt et al. 1994, 1996

Intracellular

 

GAP

Mid-gestation

Undefined

Postimplantation arrest and death

 

Henkemeyer et al. 1995

PLCY1

Mid-gestation

Unknown

Growth retarded

Ji et al. 1997

PRKM4/MAPKK4

Mid-gestation

Undefined

Death

Yang et al. 1997b

PTPN11/SHP2

Mid-gestation

Undefined

Failure to gastrulate

Saxton et al. 1997

SAPK/ERK1

Viable

T cells

Altered susceptibility to apoptosis

Nishina et al. 1997

SERK2/SAPK/ERK/JNK3

Viable

CNS

Altered response to kainic acid damage

Yang et al. 1997a

H-RAS

Viable

None

None

Cancer

Johnson et al. 1997

K-RAS 2

Mid-gestation

CNS

Increased cell death

Cancer

Koera et al. 1997

N-RAS

Viable

None

None

Tumors

Umanoff et al. 1995



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