Gene: Zfp91 MGI:104854
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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 |
---|---|---|---|---|---|---|
enlarged lymph nodes | Zfp91em1(IMPC)Tcp | HET | Early adult | 0.00 | ||
preweaning lethality, complete penetrance | Zfp91em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
edema | Zfp91em1(IMPC)Tcp | HOM | E15.5 | 0.00 | ||
abnormal embryo size | Zfp91em1(IMPC)Tcp | HOM | E9.5 | 0.00 | ||
pallor | Zfp91em1(IMPC)Tcp | HOM | E15.5 | 0.00 | ||
abnormal skin coloration | Zfp91em1(IMPC)Tcp | HOM | E15.5 | 0.00 | ||
increased startle reflex | Zfp91em1(IMPC)Tcp | HET | Early adult | 2.14×10-06 | ||
decreased body length | Zfp91em1(IMPC)Tcp | HET | Early adult | 4.51×10-06 | ||
abnormal embryo size | Zfp91em1(IMPC)Tcp | HOM | E15.5 | 0.00 |
Human diseases caused by Zfp91 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.
The table below shows human diseases predicted to be associated to Zfp91 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Kaposi Sarcoma, Susceptibility To | Hypermelanotic macule, Edema | OMIM:148000 | |
Lipedema | Edema | OMIM:614103 | |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency | Lymphadenopathy | ORPHA:319600 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Albinism, Hypopigmentation of the skin, Pallor | ORPHA:2786 | |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) | Abnormal lymph node morphology | OMIM:136580 | |
Mastocytosis, Cutaneous | Erythema, Hypermelanotic macule, Edema | OMIM:154800 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Acral Self-Healing Collodion Baby | Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... | ORPHA:281127 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
X-Linked Sideroblastic Anemia | Hyperpigmentation of the skin, Pallor | ORPHA:75563 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Hb Bart'S Hydrops Fetalis | Polyhydramnios, Oligohydramnios, Pallor, Hydrops fetalis | ORPHA:163596 | |
Dermatitis, Atopic | Dry skin, Facial erythema, Pallor | OMIM:603165 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Congenital Heart Block | Intrauterine growth retardation, Peripheral edema, Pleural effusion, Oligohydramnios, Pallor, Per... | ORPHA:60041 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Lymphatic Malformation 11 | Pedal edema, Lymphedema | OMIM:619401 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Intellectual Developmental Disorder, Autosomal Recessive 54 | Exaggerated startle response | OMIM:617028 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Kcnq2-Related Epileptic Encephalopathy | Cerebral edema, Facial erythema, Pallor | ORPHA:439218 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Wells Syndrome | Skin vesicle, Edema | ORPHA:901 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis | OMIM:266200 | |
Lymphatic Malformation 8 | Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion | OMIM:618773 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Pulmonary Edema Of Mountaineers, Susceptibility To | Pulmonary edema, Edema | OMIM:178400 | |
American Trypanosomiasis | Periorbital edema, Pallor, Edema | ORPHA:3386 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Sea-Blue Histiocytosis | Hyperpigmentation of the skin, Hypopigmentation of the skin, Petechiae, Edema | ORPHA:158029 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor, Cafe-au-lait spot | OMIM:615234 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Lymphatic Malformation 7 | Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... | OMIM:617300 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor, Lymphedema | ORPHA:3226 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Primary Myelofibrosis | Purpura, Petechiae, Pallor, Ecchymosis | ORPHA:824 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor, Cafe-au-lait spot | OMIM:609053 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor, Edema | ORPHA:329971 | |
Lymphangiectasia, Pulmonary, Congenital | Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... | OMIM:265300 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Beta-Ketothiolase Deficiency | Pallor, Dehydration, Edema | ORPHA:134 | |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation | Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... | OMIM:602450 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Waldenström Macroglobulinemia | Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema | ORPHA:33226 | |
Superficial Epidermolytic Ichthyosis | Erythema, Edema | ORPHA:455 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor, Cafe-au-lait spot | ORPHA:300298 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Sepsis In Premature Infants | Pallor, Purpura, Petechiae, Edema | ORPHA:90051 | |
Refractory Anemia With Excess Blasts | Anemic pallor, Pedal edema | ORPHA:86839 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor, Dehydration | OMIM:246450 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor, Dehydration, Edema | ORPHA:20 | |
Dominant Beta-Thalassemia | Hyperpigmentation of the skin, Pallor, Skin ulcer | ORPHA:231226 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... | OMIM:608643 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Fumarase Deficiency | Ascites, Polyhydramnios, Pallor | OMIM:606812 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Anemia, Sideroblastic, And Spinocerebellar Ataxia | Intrauterine growth retardation, Pallor | OMIM:301310 | |
Sandhoff Disease, Infantile Form | Hepatosplenomegaly, Exaggerated startle response | ORPHA:309155 | |
Beta-Thalassemia Major | Hyperpigmentation of the skin, Pallor, Skin ulcer | ORPHA:231214 | |
Meige Disease | Lymph node hypoplasia, Absence of lymph node germinal center | ORPHA:90186 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Purine Nucleoside Phosphorylase Deficiency | Lymph node hypoplasia, Splenomegaly, Tremor | OMIM:613179 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Gm2 Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | ORPHA:309246 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Hydrops fetalis, Pallor, Dehydration | OMIM:557000 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Incontinentia Pigmenti | Erythema, Pallor, Abnormality of skin pigmentation | OMIM:308300 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor, Cafe-au-lait spot, Hyperpigmentation of the skin | OMIM:227645 | |
Fanconi Anemia, Complementation Group E | Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot | OMIM:600901 | |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency | Absent tonsils, Lymph node hypoplasia | ORPHA:276 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Fanconi Anemia, Complementation Group A | Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation | OMIM:227650 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Alternating Hemiplegia Of Childhood | Pallor, Dehydration | ORPHA:2131 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Stiff-Person Syndrome | Opisthotonus, Exaggerated startle response | OMIM:184850 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Truncal titubation, Tremor, Exaggerated startle response | OMIM:618056 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Infection-Related Hemolytic Uremic Syndrome | Generalized edema, Pallor, Edema, Pleural empyema | ORPHA:544482 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Exaggerated startle response | OMIM:620114 | |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops | Edema | OMIM:612097 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Idiopathic Hypereosinophilic Syndrome | Pallor, Pleural effusion, Joint swelling, Angioedema | ORPHA:3260 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities | Tremor, Exaggerated startle response | OMIM:620327 | |
Gm2-Gangliosidosis, Ab Variant | Dystonia, Exaggerated startle response | OMIM:272750 | |
Histiocytoid Cardiomyopathy | Pulmonary edema, Pallor | ORPHA:137675 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Degcags Syndrome | Hypopigmentation of the skin, Intrauterine growth retardation, Pallor, Abnormality of skin pigmen... | OMIM:619488 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response | OMIM:616881 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Pallor | OMIM:277400 | |
Esophageal Atresia | Polyhydramnios, Pallor | ORPHA:1199 | |
Sandhoff Disease | Hepatosplenomegaly, Exaggerated startle response | OMIM:268800 | |
Fanconi Anemia, Complementation Group D2 | Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation | OMIM:227646 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Dystonia, Exaggerated startle response | ORPHA:438216 | |
Neuroblastoma | Anemic pallor | ORPHA:635 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Exaggerated startle response | OMIM:617864 | |
Von Hippel-Lindau Disease | Macular edema, Pallor | ORPHA:892 | |
Tsh-Secreting Pituitary Adenoma | Pericardial effusion, Pallor | ORPHA:91347 | |
Diamond-Blackfan Anemia | Pallor, Nonimmune hydrops fetalis | ORPHA:124 | |
Tay-Sachs Disease | Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia | ORPHA:845 | |
Diamond-Blackfan Anemia 1 | Spina bifida occulta, Intrauterine growth retardation, Pallor | OMIM:105650 | |
Gm1 Gangliosidosis Type 1 | Hepatosplenomegaly, Exaggerated startle response | ORPHA:79255 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Developmental And Epileptic Encephalopathy 49 | Exaggerated startle response | OMIM:617281 | |
Plaa-Associated Neurodevelopmental Disorder | Dystonia, Exaggerated startle response | ORPHA:521426 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Asparagine Synthetase Deficiency | Tremor, Exaggerated startle response | OMIM:615574 | |
Agammaglobulinemia, X-Linked | Lymph node hypoplasia | OMIM:300755 | |
Combined Oxidative Phosphorylation Deficiency 58 | Exaggerated startle response | OMIM:620451 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Multiple Mitochondrial Dysfunctions Syndrome 7 | Dystonia, Exaggerated startle response | OMIM:620423 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Dystonia, Exaggerated startle response | ORPHA:438213 | |
Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Zfp91em1(IMPC)Tcp | Exon Deletion | Mice |
Zfp91tm194308(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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