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Gene: Rab10 MGI:105066

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Gene Summary

Name:
RAB10, member RAS oncogene family
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
iris synechia Rab10em1(IMPC)J HET Early adult 1.73×10-21
preweaning lethality, complete penetrance Rab10em1(IMPC)J HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Rab10em1(IMPC)J HET Early adult 2.62×10-12
decreased mean corpuscular volume Rab10em1(IMPC)J HET Early adult 3.15×10-10
increased startle reflex Rab10em1(IMPC)J HET Early adult 4.06×10-05
embryonic lethality prior to organogenesis Rab10em1(IMPC)J HOM   E9.5 0.00
abnormal auditory brainstem response Rab10em1(IMPC)J HET   Early adult 1.48×10-06

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Rab10 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 Rab10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Absent earlobe, Low-set ears, Sclerocornea, Micro... OMIM:612109
Idiopathic Anterior Uveitis
Increased cup-to-disc ratio, Posterior subcapsular cataract, Posterior synechiae of the anterior ... ORPHA:280914
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hyp... ORPHA:3240
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Focal dystonia, Generalized dystonia, P... ORPHA:52368
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Sensorineural hearing impairment, Microcornea, Iris h... ORPHA:3214
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Rieger anomaly, Senso... OMIM:109120
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Sensorineural hearing impairment OMIM:609057
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529799
Charcot-Marie-Tooth Disease Type 1B
Hearing impairment, Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Low-set ears, H... ORPHA:96125
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology ORPHA:1617
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Intermediate Uveitis
Band keratopathy, Cataract, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anterior chamber flare, Chorioretinal scar, Posterior uveitis, Cataract, Iris ... ORPHA:91500
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Dystonia OMIM:277410
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia, Hearing impairment ORPHA:2169
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Abnormal corneal endothelium morphology, Posterior synechiae of the anterior c... ORPHA:364055
Cockayne Syndrome Type 1
Uveitis, Optic atrophy, Cataract, Anemia, Macrotia, Abnormality of peripheral nerve conduction, A... ORPHA:90321
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Low-set ears, Developmental glaucoma, Thrombocytosis, Erythro... ORPHA:124
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cataract, Optic disc pallor OMIM:619260
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Diamond-Blackfan Anemia 7
Atresia of the external auditory canal, Neutropenia, Increased mean corpuscular volume, Macrocyti... OMIM:612562
Hyperekplexia 3
Exaggerated startle response OMIM:614618
16Q24.3 Microdeletion Syndrome
Astigmatism, Optic nerve hypoplasia, Increased mean corpuscular volume, Protruding ear, Thrombocy... ORPHA:261250
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hem... ORPHA:98791
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Heterochromia iridis, Sensorineural hearing impairment, Aganglionic megacolon... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory respons... ORPHA:79330
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome B
Developmental cataract, Hypoplasia of the iris, Microcornea, Sensorineural hearing impairment, Sp... OMIM:133540
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... ORPHA:231214
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Optic neuropathy, Increased cup... ORPHA:98977
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Decre... ORPHA:909
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Microtia, HbH hemoglobin OMIM:141750
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Cockayne Syndrome A
Sensorineural hearing impairment, Cataract, Splenomegaly, Decreased nerve conduction velocity, Ab... OMIM:216400
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Microtia, HbH hemoglobin, Posteriorly rotated ear... OMIM:301040
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Megalocornea, Optic atrophy, Abnormality iris morphology ORPHA:370959
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Sensorineural hearing impairment, Aganglionic megacolon, Anemia, Abnormal hemoglobin, Optic atrophy ORPHA:847
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Facial Spasm
Anisocoria OMIM:134300
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Mend Syndrome
Abnormal auditory evoked potentials, Cataract, Low-set ears ORPHA:401973
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Tremor, Iris atrophy, Abnormal autonomic nervous system physiology OMIM:146500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Low-set ears, Macrotia, Exaggerated startle response, Hearing impairment ORPHA:79255
Tay-Sachs Disease
Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic atrophy, Hearing impairment, Tr... ORPHA:845
Collagenoma, Familial Cutaneous
Sensorineural hearing impairment, Iris atrophy OMIM:115250
Lead Poisoning
Anemia, Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesis, Abnormal T ... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Optic atrophy, Exaggerated startle response OMIM:253800
Oculodentodigital Dysplasia
Microcornea, Cataract, Conductive hearing impairment, External ear malformation, Optic atrophy, H... ORPHA:2710
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy OMIM:617527
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response OMIM:619522

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 Rab10

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 Rab10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of Adipose Rab10-Dependent Insulin Signaling Causes Hepatic Insulin Resistance. Diabetes (March 2016) Rab10tm1a(KOMP)Wtsi PMC4878419

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MGI Allele Allele Type Produced
Rab10tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rab10em1(IMPC)J Exon Deletion Mice
Rab10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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