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Gene: Ambra1 MGI:2443564

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Gene Summary

Name:
autophagy/beclin 1 regulator 1
Synonyms:
2310079H06Rik,  D030051N19Rik

Order Alleles

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
decreased prepulse inhibition Ambra1em1(IMPC)Bay HET Early adult 2.36×10-05
abnormal retina inner nuclear layer morphology Ambra1em1(IMPC)Bay HET   Early adult 3.83×10-05
abnormal hindbrain morphology Ambra1em1(IMPC)Bay HOM E12.5 0.00
prenatal lethality Ambra1em1(IMPC)Bay HOM   E18.5 0.00
abnormal midbrain morphology Ambra1em1(IMPC)Bay HOM E12.5 0.00
facial cleft Ambra1em1(IMPC)Bay HOM E15.5 0.00
abnormal eye anterior chamber depth Ambra1em1(IMPC)Bay HET Early adult 1.10×10-05
abnormal neural tube closure Ambra1em1(IMPC)Bay HOM E9.5 0.00
abnormal tail morphology Ambra1em1(IMPC)Bay HOM E15.5 0.00
abnormal cranium morphology Ambra1em1(IMPC)Bay HOM E12.5 0.00
spina bifida Ambra1em1(IMPC)Bay HOM E15.5 0.00
abnormal tail morphology Ambra1em1(IMPC)Bay HOM E12.5 0.00
abnormal neural tube closure Ambra1em1(IMPC)Bay HOM E12.5 0.00
preweaning lethality, complete penetrance Ambra1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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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

10 Images

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Eye Morphology

VIP of right fundus

14 Images

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Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of left eye

14 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E9.5

Embryo reconstruction

7 Images

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Human diseases caused by Ambra1 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 Ambra1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Anophthalmia Plus Syndrome
Facial cleft, Spina bifida ORPHA:1104
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Facial cleft, Anterior encephalocele OMIM:601357
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... OMIM:207950
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Supernumerary Nostril
Facial cleft ORPHA:141096
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Dandy-... ORPHA:1647
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Frontofacionasal Dysplasia
Encephalocele, Facial cleft ORPHA:1791
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Joubert Syndrome 15
Exencephaly OMIM:614464
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Facial cleft ORPHA:1786
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:614815
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Mosaic Trisomy 9
Dandy-Walker malformation, Facial cleft, Spina bifida ORPHA:99776
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Amish Lethal Microcephaly
Agenesis of corpus callosum, Spina bifida ORPHA:99742
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Tessier number 13 facial cleft, Cerebellar vermis h... OMIM:613451
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... OMIM:608091
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Facial cleft ORPHA:268249
Acromelic Frontonasal Dysostosis
Encephalocele, Midline facial cleft, Retrocerebellar cyst OMIM:603671
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... ORPHA:356961
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... OMIM:213300
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida ORPHA:1393
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Facial cleft ORPHA:861
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... OMIM:600145
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:2318
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Holoprosencephaly 1
Cerebellar hypoplasia, Ethmocephaly, Facial cleft, Alobar holoprosencephaly OMIM:236100
Neu-Laxova Syndrome 2
Cerebellar hypoplasia, Spina bifida OMIM:616038
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220497
3Mc Syndrome 3
Facial cleft OMIM:248340
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo... ORPHA:268810
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism OMIM:617660
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Limb Body Wall Complex
Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Anencephaly, Hydr... ORPHA:2369
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220493
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Facial cleft ORPHA:306542
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele, Facial cleft OMIM:219000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Neu-Laxova Syndrome
Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morphology, Spina bi... ORPHA:2671
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Trisomy 18
Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Isolated Arrhinia
Facial cleft ORPHA:1134
Bartsocas-Papas Syndrome 1
Facial cleft OMIM:263650
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Spina bifida ORPHA:2092
Nail-Patella Syndrome
Spina bifida OMIM:161200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma... ORPHA:79139
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation ORPHA:79321
Fibular Hemimelia
Spina bifida ORPHA:93323
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Spinal... ORPHA:573278
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Tethered cord, Spina bifida, Partial agenesis of the corpus callosum OMIM:619480
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small ... OMIM:256520
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Aicardi Syndrome
Partial agenesis of the corpus callosum, Spina bifida, Lateral ventricle dilatation OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Syringomyelia, Spina bifida OMIM:274000
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Spina bifida ORPHA:508498
22Q11.2 Deletion Syndrome
Spina bifida, Patent ductus arteriosus, Meningocele, Hydrocephalus, Occipital myelomeningocele, U... ORPHA:567
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Agenesis of corpus callosum, Spina bifida, Dural ectasia ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Spina bifida, Dural ectasia ORPHA:363958
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia OMIM:277170
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Jacobsen Syndrome
Agenesis of corpus callosum, Spina bifida ORPHA:2308
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fanconi Anemia
Umbilical hernia, Patent ductus arteriosus, Hydrocephalus, Spina bifida ORPHA:84
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen... ORPHA:2162
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Patent ductus arteriosus, Patent urachus OMIM:192350
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Spina bifida occulta, Agenesis of corpus callosum, Spina bifida OMIM:180849
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Gangliocytoma
Abnormal cerebellum morphology, Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor ORPHA:251937
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cerebellar hypoplasia, Facial cleft, Dandy-Walker malformation ORPHA:93271
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ch... OMIM:249000
Cartilage-Hair Hypoplasia
Spinal dysraphism ORPHA:175
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia OMIM:616202
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Holoprosencephaly, Cerebellar hypoplasia, ... OMIM:615948
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Wilson Disease
Face of the giant panda sign OMIM:277900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Spinal dysraphism ORPHA:96334
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:434179
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology ORPHA:93924
Schinzel-Giedion Syndrome
Chiari type I malformation, Umbilical hernia, Neural tube defect ORPHA:798
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Chiari malformation, Transverse facial... OMIM:164210
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology ORPHA:464311

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 Ambra1

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 Ambra1.

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

Title Journal IMPC Allele PubMed ID
Ambra1 deficiency impairs mitophagy in skeletal muscle. Journal of cachexia, sarcopenia and muscle (May 2022) Ambra1tm1a(EUCOMM)Wtsi PMC9434724

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MGI Allele Allele Type Produced
Ambra1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ambra1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ambra1em1(IMPC)Bay Exon Deletion Mice

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