Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Phenotypes:
Affected Systems
hm1
hm2
hm3
hm4
cx5
cx6
cx7
cx8
cx9
cx10
cx11
cx12
cx13
cx14
cx15
cx16
cx17
show or hide all annotated terms Sex:
                     
adipose tissue
√ √ √
decreased subcutaneous adipose tissue amount
√ √
abnormal adipose tissue distribution
√ √ √
behavior/neurological
√ √ √
decreased locomotor activity
√ √
impaired exercise endurance
√
cardiovascular system
√ √ √ √
abnormal angiogenesis
√ √
abnormal myocardial fiber morphology
√ √ √
abnormal binucleate cardiomyocyte morphology
√ √
decreased myocardial fiber number
√ √
decreased myocardial fiber size
√ √
decreased heart weight
√ √
cardiac hypertrophy
√ √
decreased heart left ventricle weight
√ √
increased heart left ventricle size
√
heart left ventricle hypertrophy
√ √
dilated heart left ventricle
√
cardiac fibrosis
√
abnormal cardiovascular system physiology
√ √
dilated cardiomyopathy
√ √ √
abnormal cardiac muscle contractility
√ √
decreased heart ventricle muscle contractility
√
abnormal cardiac muscle relaxation
√ √
abnormal fetal cardiomyocyte proliferation
√ √
decreased left ventricle developed pressure
√ √
increased left ventricle diastolic pressure
√ √
prolonged QRS complex duration
√
ventricular cardiomyopathy
√
congestive heart failure
√ √
cellular
√ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √
abnormal spermatocyte morphology
√
decreased male germ cell number
√ √
decreased elongated spermatid number
√
abnormal chromosome morphology
√ √ √ √ √ √
abnormal telomere length
√ √ √ √ √
decreased telomere length
√ √ √ √ √ √ √ √ √
disorganized mitochondrial cristae
√
abnormal mitochondrial shape
√
decreased mitochondrial size
√
increased mitochondrial number
√
abnormal cell physiology
√ √
abnormal fetal cardiomyocyte proliferation
√ √
abnormal oocyte morphology
√
abnormal meiosis
√ √
abnormal female meiosis
√
abnormal male meiosis
√
increased apoptosis
√ √ √ √
increased B cell apoptosis
√ √
increased cardiomyocyte apoptosis
√ √
increased embryonic tissue cell apoptosis
√ √
increased enterocyte apoptosis
√ √
increased male germ cell apoptosis
√ √
abnormal enterocyte proliferation
√
decreased cell proliferation
√ √
decreased B cell proliferation
√ √
decreased T cell proliferation
√ √
abnormal DNA repair
√ √
chromosomal instability
√ √ √
oxidative stress
√
digestive/alimentary system
√ √ √ √ √ √ √ √ √ √ √ √
digestive/alimentary phenotype
N
increased enterocyte apoptosis
√ √
abnormal enterocyte proliferation
√
abnormal intestine morphology
√ √ √ √ √ √ √ √
abnormal crypts of Lieberkuhn morphology
√ √ √ √
embryo
√ √
increased embryonic tissue cell apoptosis
√ √
abnormal developmental patterning
√ √
open neural tube
√ √
endocrine/exocrine glands
√ √ √ √ √ √
abnormal crypts of Lieberkuhn morphology
√ √ √ √
small testis
√ √
testicular atrophy
√ √
growth/size/body
√ √ √ √ √ √ √ √
cardiac hypertrophy
√ √
heart left ventricle hypertrophy
√ √
decreased body size
√ √ √ √
decreased body weight
√ √ √ √ √ √ √ √
weight loss
√ √
decreased fetal size
√ √
hematopoietic system
√ √ √ √ √ √
increased B cell apoptosis
√ √
decreased B cell proliferation
√ √
decreased T cell proliferation
√ √
abnormal blood cell morphology/development
√ √
abnormal definitive hematopoiesis
√ √
anemia
√ √
impaired hematopoiesis
√ √
absent bone marrow cell
√ √ √ √
abnormal erythrocyte morphology
√ √
decreased erythrocyte cell number
√ √
abnormal granulocyte morphology
√ √ √ √
decreased granulocyte number
√ √
thrombocytopenia
√ √
decreased leukocyte cell number
√ √
decreased hematopoietic stem cell number
√ √
pancytopenia
√ √
decreased spleen B cell follicle number
√ √
decreased spleen germinal center number
√ √
homeostasis/metabolism
√ √ √ √ √ √ √ √ √
homeostasis/metabolism phenotype
N N
impaired exercise endurance
√
abnormal DNA repair
√ √
hyperglycemia
√ √
increased circulating insulin level
√ √
increased circulating creatine kinase level
√ √
impaired glucose tolerance
√ √
decreased incidence of tumors by chemical induction
√ √ √
delayed wound healing
√ √ √
impaired wound healing
√ √
immune system
√ √ √ √ √ √ √
increased B cell apoptosis
√ √
decreased B cell proliferation
√ √
decreased T cell proliferation
√ √
abnormal granulocyte morphology
√ √ √ √
decreased granulocyte number
√ √
decreased leukocyte cell number
√ √
decreased spleen B cell follicle number
√ √
decreased spleen germinal center number
√ √
myositis
√
integument
√ √ √ √ √ √ √
decreased subcutaneous adipose tissue amount
√ √
alopecia
√ √ √ √
focal hair loss
√
abnormal nail morphology
√ √
dry skin
√
limbs/digits/tail
√ √
abnormal femur morphology
√ √
mortality/aging
√ √ √ √ √ N √ √ √ √ √ √ √ √ √
mortality/aging
N
premature death
√ √ √ √ √ √ √ √ √
postnatal lethality, complete penetrance
√ √
prenatal lethality, complete penetrance
√
prenatal lethality, incomplete penetrance
√ √
premature aging
√ √ √ √ √ √
muscle
√ √ √ √ √ √
abnormal myocardial fiber morphology
√ √ √
abnormal binucleate cardiomyocyte morphology
√ √
decreased myocardial fiber number
√ √
decreased myocardial fiber size
√ √
heart left ventricle hypertrophy
√ √
abnormal skeletal muscle morphology
√
increased variability of skeletal muscle fiber size
√
centrally nucleated skeletal muscle fibers
√ √
abnormal diaphragm morphology
√ √
decreased satellite cell number
√
skeletal muscle degeneration
√
skeletal muscle fibrosis
√
skeletal muscle necrosis
√
calcified muscle
√
dystrophic muscle
√
muscular atrophy
√
abnormal muscle physiology
√ √
dilated cardiomyopathy
√ √ √
abnormal cardiac muscle contractility
√ √
decreased heart ventricle muscle contractility
√
abnormal cardiac muscle relaxation
√ √
abnormal fetal cardiomyocyte proliferation
√ √
ventricular cardiomyopathy
√
increased cardiomyocyte apoptosis
√ √
myositis
√
abnormal muscle electrophysiology
√
muscle weakness
√
neoplasm
√ √ √ √ √ √ √ √ √ √
decreased incidence of induced tumors
√ √
decreased incidence of tumors by chemical induction
√ √ √
increased tumor incidence
√ √ √
increased lymphoma incidence
√ √ √ √ √
increased carcinoma incidence
√
increased sarcoma incidence
√ √ √ √ √ √
increased osteosarcoma incidence
√ √
nervous system
√ √
open neural tube
√ √
pigmentation
√ √
hyperpigmentation
√ √
reproductive system
√ √ √ √ √ √ √ √
abnormal oocyte morphology
√
decreased male germ cell number
√ √
abnormal meiosis
√ √
abnormal female meiosis
√
increased male germ cell apoptosis
√ √
abnormal spermatogenesis
√ √
decreased elongated spermatid number
√
abnormal spermatocyte morphology
√
abnormal male meiosis
√
small gonad
√ √
small testis
√ √
testicular atrophy
√ √
reduced female fertility
√
decreased litter size
√ √
infertility
√ √
respiratory system
√
respiratory failure
√
skeleton
√ √ √ √ √ √ √ √
abnormal femur morphology
√ √
increased osteosarcoma incidence
√ √
kyphosis
√ √ √ √ √ √ √
abnormal bone marrow morphology
√ √ √
decreased bone volume
√ √ √
abnormal compact bone morphology
√ √ √
decreased compact bone area
√ √ √
decreased compact bone thickness
√ √ √
abnormal bone trabecula morphology
√ √
decreased bone trabecula number
√ √ √
increased bone trabecular spacing
√ √ √
decreased trabecular bone mass
√ √
decreased trabecular bone thickness
√ √ √
osteoporosis
√ √ √
abnormal osteoid morphology
√ √ √
abnormal skeleton physiology
√ √ √
abnormal bone ossification
√ √ √
fragile skeleton
√ √
vision/eye
√ √
cataract
√ √