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Table 5 Selected Mouse Genes-Disease Phenotypes

From: Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

Mouse Gene Sym.

Human Ortholog Gene Sym.

Mouse Phenotype 1

Mouse Phenotype 2

Mouse Phenotype 3

Mouse Phenotype 4

Mouse Phenotype 5

A4galt

A4GALT

abnormal induced morb./mort.

abnormal resp./metab. to xenobiotics

life span-post-weaning/aging

homeostasis/metab. phenotype

 

Abca2

ABCA2

tremors

decreased body weight

behavior/neurological phenotype

hyperactivity

increased startle reflex

Abcc2

ABCC2

abnormal blood chemistry

abnormal liver physiology

abnormal urine chemistry

abnormal kidney physiology

Abn. resp./metabolism to xenobiotics

Abi2

ABI2

abn. corpus callosum morph.

abnormal cerebral cortex morph.

abnormal hippocampus morph.

abnormal dentate gyrus morph.

microphthalmia

Acaca

ACACA

abnormal liver physiology

abnormal lipid level

incr. circulating free fatty acid level

hyperglycemia

embryonic growth arrest

Acads

ACADS

hypoglycemia

behavior/neurological phenotype

abnormal drinking behavior

abnormal food preference

abnormal urine chemistry

Accn1

ACCN1

retinal degeneration

vision/eye phenotype

abnormal eye electrophysiology

  

Adad1

ADAD1

impaired fertilization

male infertility

asthenozoospermia

oligozoospermia

reproductive system phenotype

Adam23

ADAM23

tremors

behavior/neurological phenotype

ataxia

postnatal lethality

lethality-postnatal

Adarb1

ADARB1

behavior/neurological phenot.

seizures

postnatal lethality

behavior/neurological phenotype

normal phenotype

Adipoq

ADIPOQ

vasculature congestion

increased body weight

decreased body weight

abnormal CNS syn. transmission

abnormal coat appearance

Adora1

ADORA1

behavior/neurological phenot.

increased anxiety-related response

abnormal body temperature regulation

abnormal angiogenesis

abnormal nervous system electrophys.

Ager

AGER

increased bone density

abnormal cancellous bone morph.

abnormal blood chemistry

reproductive system phenotype

abnormal cell proliferation

Akap1

AKAP1

reduced female fertility

decreased litter size

abnormal female meiosis

increased cholesterol level

 

Apoc1

APOC1

abnormal circ. cholesterol level

abnormal lipid level

increased circulating triglyceride level

abnormal immune sys. Morph.

abnormal bile composition

B2m

B2M

decreased hematocrit

abnormal interleukin-10 physiology

rectal prolapse

abnormal dorsal root gang. morph.

enlarged spleen

Bax

BAX

enlarged spleen

increased thymocyte number

abnormal motor neuron morph.

short snout

abnormal sympathetic neuron morph.

Bcl2

BCL2

small ears

absent melanin granules in hair follicle

abnormal snout morph.

herniated abdominal wall

abnormal small intestine morph.

Bmp1

BMP1

abnormal heart morph.

abnormal aorta morph.

abnormal ventricular septum morph.

abnormal awl hair

prenatal lethality

Brca1

BRCA1

abnormal cell death

increased cell proliferation

decreased cell proliferation

decreased anxiety-related resp.

kinked tail

Capn10

CAPN10

abnormal pancreas physiology

endocrine/exocrine gland phenotype

digestive/alimentary phenotype

decreased inflammatory response

 

Casp1

CASP1

abnormal apoptosis

abnormal induced morbidity/mortality

abnormal inflammatory response

decr. suscep. to endotoxin shock

tumorigenesis

Ccr4

CCR4

immune system phenotype

decreased tumor necrosis factor secr.

decreased interleukin-1 beta secretion

abnormal induced morbid./mort.

 

Dusp1

DUSP1

thick alveolar septum

abnormal circ. alanine transaminase

hypotension

increased thymocyte number

lung inflammation

E2f1

E2F1

abnormal cell death

decreased salivation

enlarged thymus

pale liver

exencephaly

Epo

EPO

abnormal erythropoiesis

abnormal pericardium morph.

small liver

postnatal growth retardation

abnormal hepatocyte morph.

Ercc4

ERCC4

abnormal cell content/morph.

abnormal liver morph.

decreased body weight

absent blood islands

liver/biliary system phenotype

F5

F5

behavior/neurological phenot.

abnormal somite development

abnormal yolk sac morph.

increased suscep. to bact. Infect.

hemorrhage

Fcgr1

FCGR1A

impaired macrophage phagocyt.

abnormal inflammatory response

decreased inflammatory response

abnormal yolk sac morph.

abnormal cell-mediated immunity

Foxo1

FOXO1

absent organized vascular net.

abnormal looping morphogenesis

abnormal vasculature

exencephaly

absent vitelline blood vessels

Gadd45a

GADD45A

decreased leukocyte cell num.

increased cell proliferation

increased thymocyte number

postnatal lethality

skin irradiation sensitivity

Gap43

GAP43

decreased body weight

abnormal optic nerve innervation

absent optic tract

abnormal erythropoiesis

nervous system phenotype

Gata1

GATA1

decreased hematocrit

abnormal thrombopoiesis

extramedullary hematopoiesis

overexpanded resp. alveoli

liver hypoplasia

Grin1

GRIN1

abn. trigeminal nerve morph.

atelectasis

lung hemorrhage

abnormal tympanic ring morph.

decreased body weight

Hoxa1

HOXA1

small ears

abnormal inner ear morph.

abnormal malleus morph.

increased susceptibility to injury

abnormal cochlea morph.

Hspa1a

HSPA1A

decreased body weight

increased cell. Sens. to gamma-irrad.

chromosome breakage

increased body weight

homeostasis/metabolism phenotype

Icam1

ICAM1

increased leukocyte cell number

increased neutrophil cell number

increased monocyte cell number

abnormal spatial learning

abnormal retina morph.

Igbp1

IGBP1

decreased thymocyte number

behavior/neurological phenotype

abnormal cued conditioning behavior

intestinal ulcer

abnormal thymus lobule morph.