Gene Summary

Name:
family with sequence similarity 120, member A
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Fam120aem1(IMPC)J HOM   Early adult 6.68×10-06
increased bone mineral content Fam120aem1(IMPC)J HOM Early adult 4.27×10-06
decreased total body fat amount Fam120aem1(IMPC)J HOM Early adult 9.78×10-06
increased heart weight Fam120aem1(IMPC)J HOM Early adult 8.02×10-10
increased circulating alkaline phosphatase level Fam120aem1(IMPC)J HOM Early adult 1.08×10-05
hyperactivity Fam120aem1(IMPC)J HOM   Early adult 4.07×10-06
increased lean body mass Fam120aem1(IMPC)J HOM Early adult 8.87×10-06
increased bone mineral density Fam120aem1(IMPC)J HOM Early adult 3.46×10-06

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Viewing: all phenotypes

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 Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Fam120a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fam120a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis OMIM:166700
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Hyperostosis Corticalis Generalisata
Sensorineural hearing impairment, Generalized osteosclerosis, Facial palsy, Abnormal cortical bon... ORPHA:3416
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... OMIM:241520
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Optic atrophy from cranial nerve ... OMIM:239100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Facial palsy, Optic atrophy, Hearing impairment ORPHA:178377
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Clavicular sclerosis, Generalized osteosclerosis, Facial palsy,... ORPHA:2790
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... ORPHA:2485
Sclerosteosis
Sensorineural hearing impairment, Increased bone mineral density, Optic atrophy, Facial palsy, Ab... ORPHA:3152
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosi... OMIM:607634
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofaci... OMIM:122860
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... ORPHA:210110
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Facial... OMIM:166600
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphysea... OMIM:144750
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defe... DECIPHER:39
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopetrosis, Optic atrophy, Facial palsy OMIM:615085
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Spl... OMIM:259700
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical he... OMIM:614856
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Coarse metaphyseal trabecularization, Inc... ORPHA:1782
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Schnitzler Syndrome
Arthritis, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:37748
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Failure to thrive, Recurrent fractures, Increased bone mineral ... OMIM:239000
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Osteopetrosis, Abnormal cranial ... ORPHA:1522
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Hypocalcemia, Osteomyelitis, Facial palsy, Osteoar... ORPHA:53
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Optic atrophy... OMIM:611490
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Paget Disease Of Bone 3
Patchy osteosclerosis, Hearing impairment, Osteolysis, Fractures of the long bones OMIM:167250
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Hypsarrhythmia OMIM:619970
Hyperprolinemia, Type I
Hyperprolinemia, EEG abnormality, Hyperactivity OMIM:239500
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Diastrophic Dysplasia
Large earlobe, Joint stiffness, Increased bone mineral density, Overfolded helix, Camptodactyly o... ORPHA:628
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... OMIM:259710
Majeed Syndrome
Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Flexion contractu... ORPHA:77297
Camurati-Engelmann Disease
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... OMIM:252920
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... ORPHA:94089
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hepatomegaly, Hyperactivity, Inguinal hernia, Splenomegaly, Dense calvaria, Umbi... OMIM:252900
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Small for gestational age, ... ORPHA:352490
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... OMIM:600501
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Aortic valve stenosis, Increased bone mineral density, Coarse meta... ORPHA:2780
Arthrogryposis, Distal, Type 2A
Failure to thrive, Hip contracture, Flexion contracture of finger, Recurrent fractures, Joint con... OMIM:193700
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Atrial septal defect, Hyperactivity, Pulmonic stenosis, EEG with burst suppres... OMIM:619239
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Pathologi... ORPHA:77259
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing impairment,... ORPHA:73272
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Rickets of the lower limbs, Hypophosphatemic rickets, Pseudo-fr... ORPHA:289176
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Increased bone mineral density, Splenomegaly, Ost... OMIM:259720
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Lipodystrophy, Visceromegaly, Weigh... ORPHA:2905
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Dental enamel pits, Increased bone mineral density ORPHA:3352
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Pycnodysostosis
Increased bone mineral density, Mild conductive hearing impairment, Coronal craniosynostosis, Hep... ORPHA:763
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Low-set, posteriorly rotated ears ORPHA:1237
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... ORPHA:98818
Werner Syndrome
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, O... ORPHA:902
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Facial paralysis, Clavicular sclerosis, Optic atrophy, Scler... OMIM:224300
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Failure to thrive, Carpal synostos... ORPHA:90652
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Hernia, Asymmetric se... OMIM:252930
Gaucher Disease
Joint stiffness, Aortic valve calcification, Osteomyelitis, Elevated circulating C-reactive prote... ORPHA:355
Desmosterolosis
Large earlobe, Failure to thrive, Anomalous pulmonary venous return, Increased bone mineral densi... ORPHA:35107
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Hyperphosph... OMIM:127000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612840
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia, Cellulitis, Reduced bone mineral density, Cra... ORPHA:89936
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Cupped ear, Generalized osteosclerosis, Total a... OMIM:602398
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va... ORPHA:77261
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... ORPHA:206443
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Schwartz-Jampel Syndrome
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... ORPHA:800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Posteriorly rotated ears OMIM:617306
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Hepatosplenomegaly, Optic nerve compression, Cranial hyperos... OMIM:259730
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hepatomegaly, Hyperactivity, ... OMIM:615673
Trichothiodystrophy
Multiple joint contractures, Protruding ear, Increased bone mineral density, Craniosynostosis, Os... ORPHA:33364
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, H... OMIM:241410
Raine Syndrome
Abnormal pinna morphology, Hypophosphatemia, Protruding ear, Increased bone mineral density, Mixe... OMIM:259775
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Increased bone mineral density, Reduced bone mine... ORPHA:79443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia, Osteopetrosis OMIM:618476
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Elbow ankylosis, Osteopetrosis, Joint hyperflexi... ORPHA:2658
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Scarring, Increased blood urea nitrogen, ... ORPHA:90321
Cockayne Syndrome B
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:133540
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Enamel hypoplasia, Hypocalcem... ORPHA:79444
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Op... OMIM:612301
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Abnormal pericardium morphology, Abnormal aortic v... ORPHA:35687
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... ORPHA:909
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears... ORPHA:2323
Cockayne Syndrome A
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:216400
Mend Syndrome
Failure to thrive, Aortic valve stenosis, Hyperactivity, Elevated 8(9)-cholestenol, Abnormal audi... ORPHA:401973
Hyperoxaluria, Primary, Type I
Optic neuropathy, Increased bone mineral density, Pathologic fracture, Optic atrophy, Hyperoxaluria OMIM:259900
Atypical Werner Syndrome
Failure to thrive, Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Incr... ORPHA:79474
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Small for gestational age, EEG with burst su... ORPHA:171929
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Atrial septa... ORPHA:79330
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Optic atrophy, Optic disc pallor, Generalized osteosclero... ORPHA:416
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Flexion contractu... ORPHA:99027
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Hiatus hernia, Hyperactivity OMIM:609727
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atrophy, Hearing impairme... ORPHA:206436
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Recurrent fractures, Hypophosphatemia, Hepatomegaly, Hypocal... ORPHA:667
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Hepatomegaly, Hyperactivity, EEG with generalized epileptiform discharges,... ORPHA:163681
Williams Syndrome
Abnormal cardiac septum morphology, Osteopenia, Radioulnar synostosis, Ventricular septal defect,... ORPHA:904
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Bone Marrow Failure Syndrome 3
Failure to thrive, Hyperactivity, Reduced bone mineral density, Cupped ear, Enamel hypoplasia, He... OMIM:617052
X-Linked Creatine Transporter Deficiency
Hyperactivity, Cachexia, Joint hyperflexibility, Abnormal circulating creatine concentration, Aga... ORPHA:52503
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hyperactivity, Hypoproteinemia, Decreased HDL... ORPHA:247585
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Failure to thrive, Hypocalcemia, Hepatomegaly, Cranial nerve compr... ORPHA:2785
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Cleidocranial Dysplasia 1
Increased bone mineral density, Enamel hypoplasia, Increased susceptibility to fractures, Hearing... OMIM:119600
Sclerosteosis 1
Cortically dense long tubular bones, Papilledema, Facial palsy, Optic atrophy, Facial palsy secon... OMIM:269500
Blomstrand Lethal Chondrodysplasia
Low-set ears, Increased bone mineral density, Synostosis of joints ORPHA:50945
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Umbilical hernia, Abnormal heart m... ORPHA:580
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hern... OMIM:614294
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Atrial septal defect, Myelofibrosis, Inguinal hernia, Hyperactivity, Pulmonic ... OMIM:607721
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Osteomyelitis, Hyperactivity, Abnormal autonomic nervous system physiology, Pos... OMIM:256800
Legius Syndrome
Hyperactivity, Pulmonic stenosis, Vestibular schwannoma, Multiple lipomas, Mitral valve prolapse,... ORPHA:137605
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Omphaloc... OMIM:306955
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Atrial septal defect, Thickened cortex of long bones,... OMIM:269150
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152

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 Fam120a

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 Fam120a.

No publications found that use IMPC mice or data for Fam120a.

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MGI Allele Allele Type Produced
Fam120aem1(IMPC)J Exon Deletion Mice

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