Gene Summary

Name:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal vocalization Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 2.82×10-06
eye hemorrhage Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 6.23×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 100% (3 of 3)
Adrenal gland  Section images homozygote 0.0% (0 of 1)
Brain  Wholemount images heterozygote 100% (3 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Cerebellum  Section images homozygote 100% (1 of 1)
Chest bone  Wholemount images heterozygote 66.67% (2 of 3)
Duodenum  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images homozygote 100% (1 of 1)
Esophagus  Wholemount images  Section images heterozygote 100% (3 of 3)
Esophagus  Section images homozygote 100% (1 of 1)
Eye  Section images heterozygote 33.33% (1 of 3)
Gall bladder  Wholemount images heterozygote 33.33% (1 of 3)
Ileum  Section images homozygote 100% (1 of 1)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Lung  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Midbrain  Section images homozygote 100% (1 of 1)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Section images homozygote 100% (1 of 1)
Oviduct  Wholemount images heterozygote 33.33% (1 of 3)
Parathyroid gland  Wholemount images heterozygote 66.67% (2 of 3)
Penis  Section images homozygote 100% (1 of 1)
Pituitary gland  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images homozygote 100% (1 of 1)
Sciatic nerve  Wholemount images heterozygote 33.33% (1 of 3)
Skin  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Skin  Section images homozygote 100% (1 of 1)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Spinal cord  Section images homozygote 100% (1 of 1)
Stomach  Section images heterozygote 100% (3 of 3)
Stomach  Section images homozygote 100% (1 of 1)
Testis  Section images homozygote 100% (1 of 1)
Tongue  Section images homozygote 100% (1 of 1)
Trachea  Section images heterozygote 33.33% (1 of 3)
Trigeminal V nerve  Section images heterozygote 33.33% (1 of 3)
Trigeminal V nerve  Section images homozygote 100% (1 of 1)
Urinary bladder  Wholemount images  Section images heterozygote 100% (3 of 3)
Urinary bladder  Section images homozygote 100% (1 of 1)
Uterus  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Vagina  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images homozygote 100% (1 of 1)
Vesicular gland  Wholemount images heterozygote 33.33% (1 of 3)
Vesicular gland  Section images homozygote 100% (1 of 1)
Aorta N/A heterozygote 0.0% (0 of 3)
Aorta N/A homozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 3)
Blood N/A homozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote Not available
Bone marrow N/A homozygote 0.0% (0 of 1)
Brain N/A homozygote 100% (1 of 1)
Brainstem N/A heterozygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cartilage tissue N/A homozygote Not available
Cecum N/A heterozygote 66.67% (2 of 3)
Cecum N/A homozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Cerebral cortex N/A homozygote Not available
Chest bone N/A homozygote Not available
Colon N/A heterozygote 66.67% (2 of 3)
Colon N/A homozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Diaphragm N/A homozygote 0.0% (0 of 1)
Duodenum N/A homozygote 0.0% (0 of 1)
Epididymis N/A heterozygote 33.33% (1 of 3)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A homozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Gonadal fat pad N/A homozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindlimb N/A heterozygote Not available
Hindlimb N/A homozygote Not available
Hippocampus N/A heterozygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote Not available
Hypothalamus N/A homozygote Not available
Ileum N/A heterozygote 33.33% (1 of 3)
Jejunum N/A heterozygote 66.67% (2 of 3)
Jejunum N/A homozygote 0.0% (0 of 1)
Kidney N/A homozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 66.67% (2 of 3)
Large intestine N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lower urinary tract N/A homozygote Not available
Lung N/A homozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Lymph node N/A homozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A homozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A homozygote 0.0% (0 of 1)
Ovary N/A heterozygote 0.0% (0 of 3)
Ovary N/A homozygote Not available
Oviduct N/A homozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 3)
Pancreas N/A homozygote 0.0% (0 of 1)
Parathyroid gland N/A homozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A homozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peripheral nervous system N/A homozygote Not available
Peyer's patch N/A heterozygote Not available
Peyer's patch N/A homozygote Not available
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A homozygote 0.0% (0 of 1)
Sciatic nerve N/A homozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skeletal muscle N/A homozygote Not available
Small intestine N/A heterozygote 100% (3 of 3)
Small intestine N/A homozygote 100% (1 of 1)
Spleen N/A heterozygote 0.0% (0 of 3)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach pyloric region N/A homozygote Not available
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Sublingual gland N/A homozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A homozygote 0.0% (0 of 1)
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thymus N/A homozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A homozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A homozygote 0.0% (0 of 1)
Uterus N/A homozygote Not available
Vagina N/A homozygote Not available
Vas deferens N/A heterozygote 33.33% (1 of 3)
Vascular system N/A heterozygote Not available
Vascular system N/A homozygote Not available
White adipose tissue N/A heterozygote Not available
White adipose tissue N/A homozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

32 Images

Adult LacZ

LacZ Images Section

81 Images

X-ray

XRay Images Forepaw

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

DSS Histology

Images

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Pfkfb4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pfkfb4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Subconjunctival hemorrhage, Ecch... ORPHA:464329
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Lujo Hemorrhagic Fever
Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... ORPHA:40923
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke OMIM:611773
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Orc... ORPHA:99826
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization ORPHA:891
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Retinoblastoma
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Atelis Syndrome 2
Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Familial Drusen
Macular hemorrhage ORPHA:75376
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hyphema, Hydrocele testis, Chordee, Pulmonic stenosis, Aortic valve stenosis ORPHA:261552
Rift Valley Fever
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding ORPHA:319251
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99226
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage ORPHA:91500
Cockayne Syndrome Type 3
Retinal hemorrhage, Cardiomyopathy, Subdural hemorrhage, Increased blood pressure ORPHA:90324
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Cockayne Syndrome
Hypertension, Retinal hemorrhage, Cryptorchidism ORPHA:191
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage OMIM:175780
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pfkfb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pfkfb4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pfkfb4tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pfkfb4tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pfkfb4tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pfkfb4tm1a(KOMP)Wtsi PMC5827107
High-throughput discovery of novel developmental phenotypes. Nature (September 2016) Pfkfb4tm1a(KOMP)Wtsi Pfkfb4tm1b(KOMP)Wtsi PMC5295821

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pfkfb4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pfkfb4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pfkfb4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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