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Gene: Fxr1 MGI:104860

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
FMR1 autosomal homolog 1
Synonyms:
9530073J07Rik,  Fxr1h,  1110050J02Rik,  Fxr1p

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Fxr1 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 Fxr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Congenital Myopathy 9A
EMG: myopathic abnormalities, Akinesia, Short stature, Cryptorchidism OMIM:618822

The table below shows human diseases predicted to be associated to Fxr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Pyknoachondrogenesis
Stillbirth OMIM:265880
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Kennedy Disease
Skeletal muscle atrophy, Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testic... ORPHA:481
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Left ventricular noncomp... OMIM:612158
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Intrauterine growth retardation, Distal arthrogryposis, Flexion contra... OMIM:617194
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defe... OMIM:615524
Tonne-Kalscheuer Syndrome
Broad-based gait, Growth delay, Abnormal heart morphology, Decreased testicular size, Congenital ... OMIM:300978
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Decreased testicular size, Postnatal growth retardation, Intrauterine gro... OMIM:610198
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Atrial septal defect,... OMIM:601186
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Pulmon... OMIM:614096
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia, Inability to walk, Ataxia OMIM:618174
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Flex... OMIM:616733
Serkal Syndrome
Abnormal penis morphology, Pulmonary hypoplasia, Growth delay, Congenital diaphragmatic hernia, V... ORPHA:139466
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Pleural effusion, Splenomegaly, Cardiomegaly, Hypogonadotropic hypog... OMIM:235200
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormality of the dia... OMIM:601163
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Knee flexion contractur... OMIM:616531
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Camptodactyly of finger, Intrauterine growth retardation, Akinesia, Cryptor... ORPHA:994
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Intrauterine growth retardation, Congenital diaphrag... ORPHA:2470
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Congenital pulmonary airway malformation, Intrauterine growth retardation, ... OMIM:611812
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent forame... OMIM:620642
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal morphology of female internal gen... ORPHA:2141
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal... ORPHA:3032
Mirage Syndrome
Microphallus, Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, Intrauterin... OMIM:617053
Meacham Syndrome
Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atrial septal defec... OMIM:608978
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Calf muscle hypertrophy, Decreased fertility, Limb muscle weakness OMIM:313200
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Short stature, Testicular atrophy, Pure red cell apla... OMIM:618165
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial... ORPHA:185
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Wolfram Syndrome 1
Growth delay, Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombo... OMIM:222300
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Hypoplastic heart, Intrauterine growth retardation, Akinesia, Flexion contracture, Pu... OMIM:253290
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Con... ORPHA:2847
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomyopathy, Decreased serum testosterone concentration, Decreased libi... ORPHA:465508
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Short sta... ORPHA:250999
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Decreased serum testosterone con... ORPHA:453533
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec... OMIM:616866
Maternal Uniparental Disomy Of Chromosome 2
Contractures of the large joints, Bilateral cryptorchidism, Decreased response to growth hormone ... ORPHA:96179
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Ty... ORPHA:171430
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... OMIM:618316
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Neonatal death OMIM:602199
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy, Neona... OMIM:253310
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Postnatal growth re... OMIM:248700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic ... OMIM:263210
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Ventricular septa... OMIM:616897
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia ORPHA:2140
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal morpholo... ORPHA:991
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Stormorken Syndrome
Howell-Jolly bodies, Myopathy, Anemia, Thrombocytopenia, Short stature, Asplenia, Hypoplastic spleen OMIM:185070
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Ventricular sept... OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Skeletal muscle atrophy, Camptodactyly of finger, Hypogonadism, Intrauterine growt... ORPHA:2990
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Hypoplastic heart, Intrauterine growth retardation, Flexion contracture, Pulmonary hy... OMIM:312150
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... ORPHA:1335
Truncus Arteriosus
Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobation, Abnormal heart mor... ORPHA:3384
Lethal Congenital Contracture Syndrome Type 1
Short stature, Skeletal muscle atrophy, Pulmonary hypoplasia ORPHA:1486
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Hepatosplenomegaly, Akinesia, Splenomegaly, Cardiomegaly, Anemia... OMIM:608013
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Fle... OMIM:608149
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect, Shawl scrotum, Short stature, Bicornuate uterus,... OMIM:145420
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Atrial septal defect,... ORPHA:2655
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Growt... OMIM:613987
Alg3-Cdg
Cardiomyopathy, Macroglossia, Abnormality of the endocrine system, Arthrogryposis multiplex conge... ORPHA:79321
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Pulmonary hypoplasia, Shoulder flexion contracture, Elbow flexion ... OMIM:620369
Pallister-Hall-Like Syndrome
Micropenis, Short stature, Anterior hypopituitarism, Pulmonary hypoplasia OMIM:241800
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hepatomegaly,... ORPHA:699
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Gracile Bone Dysplasia
Micropenis, Asplenia, Short stature, Hypoplastic spleen OMIM:602361
Distal Triplication 15Q
Abnormal heart morphology, Intrauterine growth retardation, Atrial septal defect, Camptodactyly, ... ORPHA:314588
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Cryptorchidism, Knee flexion contracture, Hip contracture, A... ORPHA:85201
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia, Hypogonadism OMIM:160900
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,... OMIM:612530
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F... ORPHA:980
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosis, Recurrent ... OMIM:613177
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Short sta... OMIM:619148
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Crypto... OMIM:265000
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia OMIM:620306
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Abnormal heart morphology, Cryptorchidism, Flexion contracture, Pulmonary h... ORPHA:1865
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Prolonged neonatal jaundice, Los... OMIM:214100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Lymphopenia, Dysmetria, Knee flexion contracture, Ataxia, Rectovaginal fi... OMIM:619708
Distal Deletion 15Q
Hypoplastic left heart, Growth delay, Double outlet right ventricle with doubly committed ventric... ORPHA:1596
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ambiguous genitalia, Ventricular septal defect OMIM:617895
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Ambiguous genitalia, Pancreatic fibrosis, Short stature, Pulmonary hyp... OMIM:615503
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Disproportionate short-limb short stature, Cryptorchidism, Pulmonary hypopl... OMIM:224410
Caudal Regression Syndrome
Decreased muscle mass, Cryptorchidism, Ambiguous genitalia, Maternal diabetes, Pulmonary hypoplasia ORPHA:3027
Odontochondrodysplasia 1
Short stature, Mesomelic short stature, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdomin... ORPHA:3309
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Atelectasis, Inability to walk, Cryptorchidism, Patent foramen ova... OMIM:620371
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Czeizel-Losonci Syndrome
Hypoplastic nipples, Dextrocardia, Posterolateral diaphragmatic hernia, Aplasia of the left hemid... ORPHA:2437
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Abnormal lung lobation, Intrauterine growth retardation, Congenital diaphragmat... ORPHA:958
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Pulmonary hypoplasia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Alg9-Cdg
Hypoplasia of the musculature, Rhizomelia, Periportal fibrosis, Abnormal lung lobation, Abnormal ... ORPHA:79328
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Ectopia cordis, Hypospadias... OMIM:313850
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Tetralogy of Fallot, Intrauterine growth retardat... ORPHA:2886
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Penile hypos... ORPHA:1692
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Megaloblastic anemia, Choreoathetosis OMIM:300322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:236500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Pulmonary hypop... OMIM:314390
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased fertility, Pelvic girdle muscle weakness, Secondary hyperparathyroidi... ORPHA:273
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Growth delay, Breast aplasia, Cryptorchidism, Complete atrioventricular can... OMIM:617063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect, Hydrocele testis, Choreoathetosis, Pulmona... OMIM:614080
Meckel Syndrome, Type 6
Hepatic fibrosis, Pulmonary hypoplasia, Absent gallbladder, Hepatic cysts, Bilobed right lung, Ab... OMIM:612284
Fryns Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal cardiac septum mor... ORPHA:2059
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspi... OMIM:300855
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Intrauterine growth retardation, Splenomegaly, Patent foramen o... OMIM:269860
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Decreased muscle mass, Inability to walk, Cryptorchidism, Campto... ORPHA:3063
Meckel Syndrome 14
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Pneumothorax, Single ventricle, Pul... OMIM:619879
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Tetralogy of Fallot, Anomalous origin of left pulmo... ORPHA:99050
Mosaic Trisomy 16
Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect, Maternal d... ORPHA:1708
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hepatic fibrosis, Hypospadias, Pulmonary hypoplasia OMIM:614091
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Lethal short-limbed short stature, Pulmonary hypoplasia OMIM:187600
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Cryptorchidism, Ventricular septal defect, Aor... OMIM:620025
Diaphanospondylodysostosis
Pulmonary hypoplasia, Intrauterine growth retardation, Disproportionate short-trunk short stature... OMIM:608022
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Cholestasis... ORPHA:731
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Fryns Syndrome
Hypospadias, Joint contracture of the hand, Chylothorax, Bifid scrotum, Polysplenia, Cryptorchidi... OMIM:229850
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat... OMIM:200995
Renal Agenesis
Pulmonary hypoplasia, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ventricular septal d... ORPHA:411709
Atelosteogenesis Type I
Pulmonary hypoplasia, Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct mo... ORPHA:1190
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Abnormal cardiac septum morphology, Single ventricle, Short stature, Flexion ... OMIM:308050
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Camptodact... OMIM:249000
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Hypogonadism, Elbow flexion contracture, Abnormal heart valve morphology, ... ORPHA:536471
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Micropeni... OMIM:270400
Congenital Myopathy 17
Diaphragmatic eventration, Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonar... OMIM:618975
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Rhizomelia, Growth delay, Abnormal lung lobation, Atrioventricular canal de... ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Postnatal growth retardation, Co... ORPHA:83617
Tetraamelia Syndrome 1
Absent external genitalia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Adrenal gland a... OMIM:273395
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice, Pulmonary hypoplasia OMIM:231680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:151210
Orofaciodigital Syndrome Type 4
Severe short stature, Recurrent respiratory infections, Camptodactyly of finger, Decreased testic... ORPHA:2753
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Postnatal growth retardation, Multiple joint contractures, Mitral valve prolapse, To... ORPHA:536467
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Pulmo... ORPHA:2260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Recurrent respiratory infections, Pancreatic fibrosis, Short stature, Jaundice,... OMIM:208500
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Elbow flexion contracture, Intrauterine growth retardation, Knee flexion co... OMIM:601559
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Growth delay, Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Postnatal... ORPHA:96334
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Pancreati... OMIM:263520
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Elbow flexion contracture, Intrauterine growth retardation, Cong... OMIM:200980
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Ventricular septal defect, Maternal diabetes, Recurrent respirat... ORPHA:1199
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Abnormal heart morphology, Intrauterine growth retardation, Cryptor... OMIM:612289
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal heart valve morphology, Abnormal cardiac septum morphology, Hyp... ORPHA:90652
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia, Congenital contracture, Decreased muscle mass, Camptodactyly of finger, Elb... OMIM:208150
Dpagt1-Cdg
Inability to walk, Akinesia, Hepatomegaly, Anemia, Ataxia, Camptodactyly, Flexion contracture, Pu... ORPHA:86309
Greenberg Dysplasia
Bone marrow hypocellularity, Rhizomelia, Disproportionate short-limb short stature, Abnormal lung... OMIM:215140
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:616546
Tetrasomy 9P
Pulmonary hypoplasia, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Abnorm... ORPHA:3310
Atelosteogenesis Type Ii
Rhizomelia, Rhizomelic arm shortening, Elbow flexion contracture, Camptodactyly, Pulmonary hypopl... ORPHA:56304
Congenital Myopathy 9A
EMG: myopathic abnormalities, Akinesia, Short stature, Cryptorchidism OMIM:618822
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu... OMIM:617925
Vacterl With Hydrocephalus
Intrauterine growth retardation, Abnormal fallopian tube morphology, Cryptorchidism, Pulmonary hy... ORPHA:3412
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Osteogenesis Imperfecta
Rhizomelia, Intrauterine growth retardation, Mitral valve prolapse, Loss of ambulation, Abnormal ... ORPHA:666
Joubert Syndrome 21
Pulmonary hypoplasia, Splenomegaly, Ataxia OMIM:615636
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Ambiguous genitalia, Cryptorchidism, Pulmonary hypoplasia OMIM:616300
Achondroplasia
Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:100800
Raine Syndrome
Short stature, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:259775
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Abnormal heart morphology, Streak ... ORPHA:798
Penile Agenesis
Bilateral lung agenesis, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Maternal... ORPHA:49
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Postnatal growth retardation, Enlarged labia min... ORPHA:3404
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal heart morphology, Cryptorchidism, Micropenis, Abnormal thymus morp... OMIM:219000
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Camptodactyly of finger, Intrauterine growth retardation, Mul... ORPHA:1662
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Pulmonary hypoplasia OMIM:200600
Neu-Laxova Syndrome 1
Joint contracture of the hand, Intrauterine growth retardation, Cryptorchidism, Patent foramen ov... OMIM:256520
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina, Pulmonary hypoplasia OMIM:271520
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Hip contracture, Knee... OMIM:606170
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:1848
Restrictive Dermopathy 1
Intrauterine growth retardation, Adrenal hypoplasia, Atrial septal defect, Limb joint contracture... OMIM:275210
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia ORPHA:50945
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal female external genitalia morphology, Vaginal fistula, Persistent cloaca, Pulmonary hypo... ORPHA:1112
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Abnormal lung lobation, Female pseudohermaphroditism, ... ORPHA:2052
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Supernumerary nipple, Cryptorchidism, Congenital diaphragma... OMIM:601803
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Uterus didelphys, Cryptorchidism, Congenital hepatic f... ORPHA:93271
Microphthalmia, Syndromic 1
Joint contracture of the hand, Growth delay, Cryptorchidism, Bicuspid aortic valve, Camptodactyly... OMIM:309800
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology, Hepatic steatosis ORPHA:391665
Craniofacial Microsomia 1
Tetralogy of Fallot, Hypoplasia of facial musculature, Pulmonary hypoplasia, Ventricular septal d... OMIM:164210

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 Fxr1

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 Fxr1.

No publications found that use IMPC mice or data for Fxr1.

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
Fxr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fxr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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