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
eye hemorrhage Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 3.11×10-07
abnormal vocalization Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 2.82×10-06
female infertility Pfkfb4tm1b(KOMP)Wtsi HOM Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

Adult LacZ

LacZ Images Section

81 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Forepaw

24 Images

DSS Histology

Images

7 Images

Adult LacZ

LacZ Images Wholemount

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 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
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
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
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
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
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Metror... ORPHA:464329
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Ecchymosis, Subconjunctival hemorrhage, Excessive... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythmia, First degr... ORPHA:509
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Vitreo... OMIM:620371
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Atelis Syndrome 2
Pulmonic stenosis, Vitreous hemorrhage, Supravalvar pulmonary stenosis OMIM:620185
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... ORPHA:33226
Fetal Cytomegalovirus Syndrome
Petechiae, Retinal hemorrhage ORPHA:294
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Familial Drusen
Macular hemorrhage ORPHA:75376
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Rift Valley Fever
Hematemesis, Abnormal bleeding, Melena, Gingival bleeding, Retinal hemorrhage ORPHA:319251
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage OMIM:608710
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Chordee, Aortic valve stenosis, Pulmonic stenosis ORPHA:261552
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Prolonged QT interval, Secondary amenorrhea, Hypertension, Femal... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Prolonged QT interval, Secondary amenorrhea, Hypertension, Femal... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Prolonged QT interval, Secondary amenorrhea, Hypertension, Femal... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Prolonged QT interval, Secondary amenorrhea, Hypertension, Femal... 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
Increased blood pressure, Cardiomyopathy, Subdural hemorrhage, Retinal hemorrhage ORPHA:90324
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Cockayne Syndrome
Hypertension, Retinal hemorrhage 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
Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage, Retinal hemorrhage OMIM:175780
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo... 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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