Receptors

 

EGFR

Perimplantation, mid-gestation, or postnatalc

Inner cell mass, placenta, skin, kidney, brain, liver, lungs

Multiple abnormalities, lung immaturity, wasting

Cancer

Threadgill et al. 1995; Miettinen et al. 1997; Sibilia and Wagner 1995; Downward et al. 1984

EPHA2

Viable

None

No phenotype

 

Chen et al. 1996

EPHA8

Viable

Neurons

Altered axonal projections

Park et al. 1997

FIT1

Viable

Vascular endothelium

Abnormal vascular channels

Fong et al. 1995

FLK1

Mid-gestation

Vascular endothelium

No blood or blood vessels

 

FLK2

Viable

Hematopoietic stem cells

Deficient B cells

FGFR1

Mid-gestation

Mesoderm

Abnormal mesoderm patterning

Pfeiffer syndrome, Acrocephalopoly-syndactyly type ll; stem cell leukemia/lymphoma syndromeb

Deng et al. 1997; Yamaguchi et al. 1994

FGFR2

Periimplantation

Inner cell mass

Growth failure

Apert, Crouzon, Pfeiffer, Jackson-Weiss, Cutis gyrata syndromeb

Arman et al. 1998

FGFR3

Viable

Skeleton, inner ear

Skeletal overgrowth

Achondroplasia; hypochandroplasia; thanatophoric dwarfism; deafness; Muenke syndrome

Colvin et al. 1996

FGFR4

Viable

None

Slight growth retardation

 

Weinstein et al. 1998

GCSFR

Viable

Immune system

Immune deficiency

Kostmann disease

Liu et al. 1996

HGFR

Mid-gestation

Skeletal muscle, liver

No muscle, small liver

 

Bladt et al. 1995

IGF2R

Perinatal

Fetus

Overgrowth, cardiac defects

Lau et al. 1994; Wang et al. 1994

IR

Neonatal

Fetus

Diabetic ketoacidosis, growth retardation

Leprechanism

Joshi et al. 1996



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