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 3.11×10-07

Download data as:  TSV  XLS

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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 N/A heterozygote 100% (3 of 3)
Adrenal gland N/A homozygote 0.0% (0 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 heterozygote 100% (3 of 3)
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)
Cerebellum N/A heterozygote 100% (3 of 3)
Cerebellum N/A homozygote 100% (1 of 1)
Cerebral cortex N/A heterozygote Not available
Cerebral cortex N/A homozygote Not available
Chest bone N/A heterozygote 66.67% (2 of 3)
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 heterozygote 66.67% (2 of 3)
Duodenum N/A homozygote 0.0% (0 of 1)
Epididymis N/A heterozygote 33.33% (1 of 3)
Epididymis N/A homozygote 100% (1 of 1)
Esophagus N/A heterozygote 100% (3 of 3)
Esophagus N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 33.33% (1 of 3)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 33.33% (1 of 3)
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)
Ileum N/A homozygote 100% (1 of 1)
Jejunum N/A heterozygote 66.67% (2 of 3)
Jejunum N/A homozygote 0.0% (0 of 1)
Kidney N/A heterozygote 100% (3 of 3)
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 heterozygote 66.67% (2 of 3)
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)
Midbrain N/A heterozygote 100% (3 of 3)
Midbrain N/A homozygote 100% (1 of 1)
Olfactory lobe N/A heterozygote 100% (3 of 3)
Olfactory lobe N/A homozygote 100% (1 of 1)
Ovary N/A heterozygote 0.0% (0 of 3)
Ovary N/A homozygote Not available
Oviduct N/A heterozygote 33.33% (1 of 3)
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 heterozygote 66.67% (2 of 3)
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)
Penis N/A homozygote 100% (1 of 1)
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 heterozygote 66.67% (2 of 3)
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Prostate gland N/A homozygote 100% (1 of 1)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A homozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 33.33% (1 of 3)
Sciatic nerve N/A homozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skeletal muscle N/A homozygote Not available
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote 100% (1 of 1)
Small intestine N/A heterozygote 100% (3 of 3)
Small intestine N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (3 of 3)
Spinal cord 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
Stomach N/A heterozygote 100% (3 of 3)
Stomach N/A homozygote 100% (1 of 1)
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)
Testis N/A homozygote 100% (1 of 1)
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)
Tongue N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 33.33% (1 of 3)
Trachea N/A homozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 33.33% (1 of 3)
Trigeminal V nerve N/A homozygote 100% (1 of 1)
Urinary bladder N/A heterozygote 100% (3 of 3)
Urinary bladder N/A homozygote 100% (1 of 1)
Uterus N/A heterozygote 66.67% (2 of 3)
Uterus N/A homozygote Not available
Vagina N/A heterozygote 33.33% (1 of 3)
Vagina N/A homozygote Not available
Vas deferens N/A heterozygote 33.33% (1 of 3)
Vas deferens N/A homozygote 100% (1 of 1)
Vascular system N/A heterozygote Not available
Vascular system N/A homozygote Not available
Vesicular gland N/A heterozygote 33.33% (1 of 3)
Vesicular gland N/A homozygote 100% (1 of 1)
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 Skull Lateral Orientation

23 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

81 Images

X-ray

XRay Images Forepaw

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

Adult LacZ

LacZ Images Wholemount

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

DSS Histology

Images

7 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, Female infertility, Oocyte arrest at metaphase I 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
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility 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
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea 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
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia 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
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... 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
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Metrorrhagia, Ecchymosis, Subconjunctival ... ORPHA:464329
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Lujo Hemorrhagic Fever
Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Bradycardia, Myocarditis... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, 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, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... 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, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis ORPHA:88
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... OMIM:192315
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Vitreous hemorrhage, Cerebral hemorrhage, Retinal hemorrhage, Intracrani... OMIM:620371
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage OMIM:177850
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis OMIM:620185
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris... ORPHA:758
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae ORPHA:294
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea ORPHA:91
Familial Drusen
Macular hemorrhage ORPHA:75376
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... ORPHA:572333
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Hematemesis, Melena, Retinal hemorrhage ORPHA:319251
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Pulmonic stenosis, Chordee, Hyphema ORPHA:261552
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Primary amenorrhea, Prolonged QT interval, Premature ov... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Female infertility, Primary amenorrhea, Prolonged QT interval, Premature ov... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Prolonged QT interval, Premature ov... ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Prolonged QT interval, Premature ov... 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, Subdural hemorrhage, Increased blood pressure, Cardiomyopathy ORPHA:90324
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage OMIM:175780
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... 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