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Gene: Fxn MGI:1096879

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Gene Summary

Name:
frataxin
Synonyms:
Frda

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Fxnem1(IMPC)J HOM   Early adult 0.00
embryonic lethality prior to organogenesis Fxnem1(IMPC)J HOM   E9.5 0.00

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lacZ Expression

Expression data not available

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

10 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Fxn 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 associated to Fxn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Friedreich Ataxia
Cardiomyopathy ORPHA:95

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Recurren... OMIM:308240
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hyperammonemia, Abnormal aortic valve morphology, Hypertroph... ORPHA:1194
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... ORPHA:36234
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep derm... OMIM:212050
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Conjunctivitis, Meningitis, Infectious encephaliti... ORPHA:448237
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis ORPHA:83317
Congenital Enterovirus Infection
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Hypoalbu... ORPHA:292
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... ORPHA:1163
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Inc... OMIM:267700
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... ORPHA:139402
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis, Cardiomyopathy ORPHA:3386
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Legionnaires Disease
Hyponatremia, Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Infectio... ORPHA:549
Avian Influenza
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:454836
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... OMIM:615122
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Abnormal hear... ORPHA:781
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hypertriglyceridemia, Skin rash, Increased circulating ferritin co... OMIM:603553
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis... ORPHA:31204
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Skin rash, Maculopapular exanthema, Increased circulating ferritin concentr... ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Elevated circulating C-reactive protein concentration ORPHA:33475
Listeriosis
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocardit... ORPHA:533
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Microsporidiosis
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... ORPHA:2552
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Infectious encephalitis ORPHA:447788
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Abnormal heart morphology, Cardiomyo... ORPHA:354
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic ora... OMIM:308230
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Elevated circulatin... ORPHA:1304
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Acute Disseminated Encephalomyelitis
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... ORPHA:83597
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Pneumonia ORPHA:464370
Japanese Encephalitis
Hyponatremia, Meningitis, Infectious encephalitis ORPHA:79139
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... ORPHA:79230
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Infectious encephalitis ORPHA:68
Cysticercosis
Abnormal myocardium morphology, Iridocyclitis, Infectious encephalitis ORPHA:1560
Rift Valley Fever
Skin rash, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis ORPHA:761
Incontinentia Pigmenti
Keratitis, Infectious encephalitis, Uveitis, Skin rash ORPHA:464
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Infectious encephalitis ORPHA:847
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... OMIM:300400
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... ORPHA:324625
Alexander Disease
Infectious encephalitis ORPHA:58
Adult-Onset Still Disease
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pharyng... ORPHA:829
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Autoinflammation With Infantile Enterocolitis
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating ferritin ... OMIM:616050
Cinca Syndrome
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Meningitis OMIM:607115
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Abnormal heart valve morphology, Pericardial effusion, Uveitis, Inflamma... ORPHA:36412
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperkalemia, Recurre... ORPHA:293987
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Follicular Lymphoma
Meningitis ORPHA:545
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Melioidosis
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... ORPHA:31202
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Retrobulbar optic neuritis, Meningitis, Uv... ORPHA:1451
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Arachnoiditis
Meningitis ORPHA:137817
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... ORPHA:379
Familial Mediterranean Fever
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Erysi... OMIM:249100
Kawasaki Disease
Pericarditis, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Hep... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Recurrent ... OMIM:617718
Gorham-Stout Disease
Osteomyelitis, Meningitis ORPHA:73
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... ORPHA:228123
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Hy... ORPHA:544482
Angiostrongyliasis
Unusual CNS infection, Meningitis ORPHA:74
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Giant Cell Arteritis
Pericarditis, Recurrent pharyngitis, Arthritis, Meningitis, Double outlet right ventricle with su... ORPHA:397
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... ORPHA:342
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Unusual CNS infection, Abnormal myocardium... ORPHA:297
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Sepsis In Premature Infants
Disseminated viral infection, Elevated circulating C-reactive protein concentration, Severe infec... ORPHA:90051
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... ORPHA:900
Progressive Multifocal Leukoencephalopathy
Meningitis ORPHA:217260
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein conce... ORPHA:449395
Acute Transverse Myelitis
Invasive parasitic infection, Decreased circulating copper concentration, Severe viral infection,... ORPHA:139417
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the la... ORPHA:906
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... OMIM:301000
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec... ORPHA:707
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Prostatitis ORPHA:1546
Hydranencephaly
Dilatation of the ventricular cavity, Meningitis ORPHA:2177
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Trichinellosis
Skin rash, Meningitis, Conjunctivitis ORPHA:863
Leptospirosis
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis ORPHA:509
Kikuchi-Fujimoto Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Malar ras... ORPHA:50918
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Friedreich Ataxia
Cardiomyopathy ORPHA:95

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 Fxn

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 Fxn.

No publications found that use IMPC mice or data for Fxn.

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MGI Allele Allele Type Produced
Fxnem1(IMPC)J Indel Mice
Fxnem2(IMPC)J Indel Mice

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