Not currently registered for phenotyping at IMPC

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

Gene Summary

FMR1 autosomal homolog 1
9530073J07Rik,  Fxr1h,  1110050J02Rik,  Fxr1p

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Short stature, Akinesia OMIM:618822

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
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
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... OMIM:620265
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... ORPHA:481
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... OMIM:612158
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Ataxia, Postnatal growth re... OMIM:610198
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Diaphragmat... OMIM:601186
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... OMIM:615524
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Tonne-Kalscheuer Syndrome
Broad-based gait, Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Ab... OMIM:300978
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... OMIM:235200
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Arthrogryposis Multiplex Congenita 6
Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Neonatal de... OMIM:619334
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Short stature, Pulmonary hypoplasia, Ataxia OMIM:618174
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... OMIM:614096
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertr... OMIM:616733
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Testicular a... OMIM:601163
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... ORPHA:139466
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Growth... OMIM:222300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Generalized amyot... ORPHA:994
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Pulmonary... OMIM:618165
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Mirage Syndrome
Hypospadias, Short stature, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism, T... OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:619003
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular... ORPHA:465508
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308750
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... ORPHA:453533
Lethal Congenital Contracture Syndrome 1
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... OMIM:253310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital diaphragmatic ... ORPHA:2141
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotestis, Pulmonary art... OMIM:611812
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Flexion contracture, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia, Intrauterine ... OMIM:253290
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr... OMIM:608978
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H... ORPHA:250999
Scimitar Syndrome
Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal... ORPHA:185
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Myopathy, Hypoplastic spleen, Anemia OMIM:185070
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gr... OMIM:616113
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Flexion contracture, Increased variabilit... OMIM:616866
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parach... OMIM:618316
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Pulmona... ORPHA:171430
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, C... OMIM:248700
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnormal heart morp... OMIM:263210
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni... OMIM:618280
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... OMIM:617022
Pagod Syndrome
Short stature, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen... ORPHA:991
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Pleural ef... OMIM:616897
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Amyoplasia, Pulmonary hypoplasia, Hypoplastic heart, Intrauterine growth ret... OMIM:312150
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of fing... ORPHA:2990
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Cholelithiasis, Testicular atrophy OMIM:160900
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmona... OMIM:608013
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Gracile Bone Dysplasia
Asplenia, Micropenis, Short stature, Hypoplastic spleen OMIM:602361
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short stature, Pulmonary hypoplasia ORPHA:1486
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... OMIM:608149
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Short stature, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplas... OMIM:145420
Thanatophoric Dysplasia
Atrial septal defect, Intrauterine growth retardation, Pulmonary hypoplasia, Disproportionate sho... ORPHA:2655
Abnormality of the endocrine system, Macroglossia, Cardiomyopathy, Pulmonary hypoplasia, Arthrogr... ORPHA:79321
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder ... OMIM:620369
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Micropenis, Short stature, Pulmonary hypoplasia OMIM:241800
Genitopatellar Syndrome
Hip contracture, Small scrotum, Short stature, Cryptorchidism, Knee flexion contracture, Pulmonar... ORPHA:85201
Distal Triplication 15Q
Abnormal external genitalia, Flexion contracture, Abnormal heart morphology, Hydrocele testis, Pu... ORPHA:314588
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, ... OMIM:612530
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Short stature, Hypospadias, Cryptorchidism, Penoscrotal transposition, Small thena... OMIM:619148
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneu... ORPHA:980
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short stature, Hypospadias, Congenital diaphragmatic hernia, Weaknes... OMIM:265000
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic... OMIM:613177
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Cryptorchidism, Flexion contracture, Abnormal heart morphology, Pulmonary h... ORPHA:1865
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... OMIM:214100
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Short stature, Akinesia OMIM:618822
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Short statur... ORPHA:1596
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Lesch-Nyhan Syndrome
Choreoathetosis, Short stature, Megaloblastic anemia, Testicular atrophy OMIM:300322
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... OMIM:616503
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Rectovaginal... OMIM:619708
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Severe short stature, Pulmonary hypoplasia, Disproportionate short-limb short sta... OMIM:224410
Caudal Regression Syndrome
Decreased muscle mass, Maternal diabetes, Cryptorchidism, Pulmonary hypoplasia, Ambiguous genitalia ORPHA:3027
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Short stature, Hypospadias, Cryptorchidism, Inability to walk, Unsteady ga... ORPHA:3063
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Short stature, Pulmonary hypoplasia, Ambiguous ge... OMIM:615503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Odontochondrodysplasia 1
Recurrent respiratory infections, Mesomelic short stature, Short stature, Pulmonary hypoplasia OMIM:184260
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdomin... ORPHA:3309
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Aplasia of the left hemidiaphragm, Hypoplastic... ORPHA:2437
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Cryptorchidism, Pulmonary hypoplasia, Atrial sept... ORPHA:2886
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... ORPHA:95430
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Uterus didelphys, Bicornuate uterus, Pul... ORPHA:958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Hydrocele testis, Choreoathetosis, Pulmonary hypoplasia, Atrial ... OMIM:614080
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Pulmonary hypoplasia, Transposition of the great art... OMIM:314390
Thoracoabdominal Syndrome
Hypospadias, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Transposition of the great ar... OMIM:313850
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Neu-Laxova Syndrome
Skeletal muscle atrophy, External genital hypoplasia, Flexion contracture, Hypogonadism, Muscular... ORPHA:2671
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:236500
Meier-Gorlin Syndrome 7
Ventricular septal defect, Short stature, Hypospadias, Complete atrioventricular canal defect, Cr... OMIM:617063
Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, ... ORPHA:79328
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1692
Fryns Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal cardiac septum morphology,... ORPHA:2059
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Pulmonary hypoplasia, Vaginal atresia, Primary amenorrhea OMIM:191830
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile d... OMIM:612284
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Atelectasis, Splenomegaly, Periportal fibrosis, Hypoplas... OMIM:269860
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... ORPHA:99050
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... OMIM:620025
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Maternal diabetes, Abnormal lung morphology, Abnormal hea... ORPHA:1708
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Aplasia of the uterus, Ambiguous genitalia,... OMIM:619879
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Short stature, Pulmonary hypoplasia, Hypospadias OMIM:614091
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... ORPHA:731
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia, Lethal short-limbed short stature, Disproportionate short-limb short stature OMIM:187600
Abnormal liver lobulation, Intrauterine growth retardation, Disproportionate short-trunk short st... OMIM:608022
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Cryptorchidism,... OMIM:229850
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Disproportionate short-limb short stature ORPHA:85166
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequest... OMIM:200995
Meckel Syndrome, Type 1
Accessory spleen, Camptodactyly of finger, Adrenal hypoplasia, External genital hypoplasia, Asple... OMIM:249000
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Adrenal hypoplasia, Flexion contracture, Mild intrauterine growth retardation, Abn... OMIM:308050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Postnatal growth retardation, Contracture of the distal i... ORPHA:83617
Atelosteogenesis Type I
Neonatal short-trunk short stature, Abnormal pancreatic duct morphology, Rhizomelia, Pulmonary hy... ORPHA:1190
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Short stature, Abnormal hea... ORPHA:536471
Congenital Myopathy 17
Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonary hypoplasia, Diaphragmatic... OMIM:618975
Renal Agenesis
Absent vas deferens, Ventricular septal defect, Pulmonary hypoplasia, Aplasia/hypoplasia of the u... ORPHA:411709
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Abnormal lung lobation, Atrial septal defect, Micropenis, Hepatic s... OMIM:270400
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Ambiguous genitalia, Rhizomelia, Ventricular septal defect, Short stature, C... ORPHA:818
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia OMIM:151210
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Severe short stature, Monorchism, Camptodactyly of finger, Prim... ORPHA:2753
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaph... ORPHA:2260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Short stature, P... OMIM:208500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, ... ORPHA:536467
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis... OMIM:208150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Short stature, Interphalangeal joint contracture of fing... ORPHA:96334
Fontaine Progeroid Syndrome
Atrial septal defect, Small scrotum, Bicuspid aortic valve, Short stature, Absent nipple, Hypopla... OMIM:612289
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Abnormal cardiac septum mo... ORPHA:90652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary ... OMIM:263520
Stuve-Wiedemann Syndrome 1
Short stature, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion con... OMIM:601559
Tetrasomy 9P
Absent gallbladder, Pericarditis, Myositis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atres... ORPHA:3310
Acrorenal-Mandibular Syndrome
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Uterus didelphys, Bico... OMIM:200980
Esophageal Atresia
Recurrent respiratory infections, Abnormal external genitalia, Ventricular septal defect, Materna... ORPHA:1199
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Seve... OMIM:215140
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:616546
Hepatomegaly, Ataxia, Akinesia, Inability to walk, Flexion contracture, Pulmonary hypoplasia, Cam... ORPHA:86309
Vacterl With Hydrocephalus
Cryptorchidism, Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal fallopian tube mo... ORPHA:3412
Atelosteogenesis Type Ii
Rhizomelia, Elbow flexion contracture, Rhizomelic arm shortening, Pulmonary hypoplasia, Camptodac... ORPHA:56304
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Pul... OMIM:617925
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Joubert Syndrome 21
Splenomegaly, Ataxia, Pulmonary hypoplasia OMIM:615636
Osteogenesis Imperfecta
Abnormal endocardium morphology, Rhizomelia, Short stature, Ataxia, Flexion contracture, Mitral v... ORPHA:666
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Rhizomelia, Pulmonary hypoplasia OMIM:616300
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Pulmonary hypo... OMIM:236700
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia OMIM:100800
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Raine Syndrome
Arthrogryposis multiplex congenita, Short stature, Pulmonary hypoplasia OMIM:259775
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Myeloid leukemia, Recurrent pneumonia, Central hypothyroidism, Abnorma... ORPHA:798
Penile Agenesis
Ambiguous genitalia, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Bilateral lung... ORPHA:49
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Abnormal heart morphology, Abnormal thymus morphology, Bicornuate ut... OMIM:219000
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Pulmonary hypoplasia OMIM:200600
Restrictive Dermopathy
Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplas... ORPHA:1662
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pul... OMIM:256520
Genitopatellar Syndrome
Hip contracture, Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism,... OMIM:606170
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Pulmonary hypoplasia, Aplasia of the uterus, Absent external genitalia OMIM:271520
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:1848
Restrictive Dermopathy 1
Limb joint contracture, Hypospadias, Adrenal hypoplasia, Flexion contracture, Pulmonary hypoplasi... OMIM:275210
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia ORPHA:50945
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal lung lobation, Bicornua... ORPHA:2052
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Pulmonary hypoplasia, Persistent cloaca ORPHA:1112
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... OMIM:601803
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... ORPHA:93271
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Hypospadias, Cryptorchidism, Growth delay, Pulmonary hypoplasia, Camptodac... OMIM:309800
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Tendon xanthomatosis, Hepatic steatosis, Myocardial steatosis ORPHA:391665
Craniofacial Microsomia 1
Pulmonary hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial muscul... OMIM:164210


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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