Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms:
1300003O09Rik

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
hyperactivity Acadsbem1(IMPC)J HOM   Early adult 3.35×10-06
iris synechia Acadsbem1(IMPC)J HOM Late adult 1.20×10-05
abnormal coat/hair pigmentation Acadsbem1(IMPC)J HOM   Late adult 1.73×10-05
abnormal lens morphology Acadsbem1(IMPC)J HOM   Late adult 1.20×10-07
abnormal mouth morphology Acadsbem1(IMPC)J HOM Late adult 1.11×10-06
decreased thigmotaxis Acadsbem1(IMPC)J HOM Early adult 6.20×10-06
abnormal vibrissa morphology Acadsbem1(IMPC)J HOM Late adult 1.21×10-05

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.

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

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

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
2-Methylbutyryl-Coa Dehydrogenase Deficiency
OMIM:610006

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Uncombable Hair Syndrome 2
Juvenile cataract, Uncombable hair, Pili canaliculi OMIM:617251
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Loose Anagen Syndrome
Iris coloboma, Abnormal hair whorl, Abnormal hair morphology ORPHA:168
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho... OMIM:601706
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigmentation of the skin, Hypo... OMIM:619165
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Fair hair OMIM:618808
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,... ORPHA:3214
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham... OMIM:221900
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Oculocutaneous Albinism Type 1
Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo... ORPHA:352731
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Chorioretinal atrophy, Microcornea, P... OMIM:612109
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I... ORPHA:999
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Sympathetic Ophthalmia
Posterior uveitis, Anterior chamber cells, Poliosis, Corneal keratic precipitates, Vitiligo, Cata... ORPHA:79098
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,... OMIM:614195
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Idiopathic Panuveitis
Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Choroidal neovascu... ORPHA:280921
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent... OMIM:203100
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Traboulsi Syndrome
Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo... OMIM:601552
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Compulsive behaviors, Self-injurious behavior, Aggressive behavior OMIM:619467
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Cataract ORPHA:1617
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Abnormal pupil morphology, ... ORPHA:54
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Brittle Cornea Syndrome 1
Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology OMIM:229200
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for... OMIM:148820
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Obesity And Hypopigmentation
Red hair OMIM:620195
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Histidinemia
Hyperactivity ORPHA:2157
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterior chamber OMIM:613154
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Classic Phenylketonuria
Cataract, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Melanocytic nevus, Albinism, Fair hair, Ocular albinism OMIM:619172
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Graves Disease
Hyperactivity, Irritability, Polyphagia OMIM:275000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... ORPHA:449291
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Iris nevus, Chorioretinal scar, Posterior uveitis, Anterior chamber... ORPHA:91500
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Hypoplastic iris stro... OMIM:193500
Facial Spasm
Anisocoria OMIM:134300
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Abnormality of hai... ORPHA:90354
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Silver-gray hair, Myopic astigmatism, Generalized hyp... OMIM:614077
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:610042
Hermansky-Pudlak Syndrome
Astigmatism, Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopig... ORPHA:79430
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Corneal opacity, Choroideremia, Iris hypopigmentation, Cataract, Ocular... ORPHA:2719
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Late-Onset Retinal Degeneration
Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,... ORPHA:67042
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Collagenoma, Familial Cutaneous
Congenital posterior occipital alopecia, Iris atrophy OMIM:115250
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Megalocornea, Cataract ORPHA:370959
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Small nail ORPHA:250999
Coats Disease
Leukocoria OMIM:300216
Oculodentodigital Dysplasia
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormality iris morphology, Microcorne... ORPHA:2710
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Microcornea, Low posterior hai... ORPHA:233
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Koolen-De Vries Syndrome
Cataract, Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Developmental cataract, Cataract, Albinis... OMIM:242840
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ... OMIM:609049
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Ch├ędiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... ORPHA:84064
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology, Sclerocornea, Cataract, Iris coloboma ORPHA:818
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Cystinosis, Nephropathic
Recurrent corneal erosions, Hypopigmentation of hair, Hypopigmentation of the skin, Corneal cryst... OMIM:219800
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmentatio... OMIM:619488
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
2-Methylbutyryl-Coa Dehydrogenase Deficiency
OMIM:610006

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 Acadsb

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 Acadsb.

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

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
Acadsbem1(IMPC)J Exon Deletion Mice
Acadsbtm44721(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acadsbtm44721(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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