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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 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
decreased prepulse inhibition Ambra1em1(IMPC)Bay HET Early adult 2.09×10-05
preweaning lethality, complete penetrance Ambra1em1(IMPC)Bay HOM   Early adult 0.00
abnormal retina morphology Ambra1em1(IMPC)Bay HET   Early adult 6.28×10-05

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.

Eye Morphology

VIP of right fundus

12 Images

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Eye Morphology

VIP of left eye

12 Images

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Eye Morphology

VIP of right eye

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left fundus

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... OMIM:207950
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Spina bifida occulta ORPHA:64754
Caudal Duplication
Spinal cord lesion, Spina bifida, Myelomeningocele ORPHA:1756
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Schisis Association
Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Amish Lethal Microcephaly
Spina bifida, Agenesis of corpus callosum, Microcephaly, Lissencephaly ORPHA:99742
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Microcephaly ORPHA:1327
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus call... ORPHA:1908
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia ORPHA:1759
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Focal cor... ORPHA:101030
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus ORPHA:1120
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Syringomyelia, Lissencephaly, Spina bifida, Hyd... ORPHA:63259
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcif... ORPHA:1393
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Hydrocephalus, Microcephaly ORPHA:1926
Wildervanck Syndrome
Meningocele ORPHA:3456
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Microcephaly OMIM:617660
Neu-Laxova Syndrome
Abnormal cortical gyration, Absent septum pellucidum, Pachygyria, Macrogyria, Spina bifida, Polym... ORPHA:2671
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele OMIM:613686
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Syringomyelia, Hydrocepha... ORPHA:1136
Meckel Syndrome, Type 4
Meningocele, Anencephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly OMIM:611134
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Mosaic Trisomy 9
Microcephaly, Spina bifida, Patent ductus arteriosus ORPHA:99776
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Macrogyria, Exencephaly, Polymicrogyria, Lissencephaly ORPHA:2211
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Meckel Syndrome, Type 2
Meningocele, Anencephaly OMIM:603194
Trisomy 18
Anencephaly, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Microcep... ORPHA:3380
Enlarged Parietal Foramina
Myelomeningocele, Encephalomalacia ORPHA:60015
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Pachyg... OMIM:304050
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Triploidy
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydrocephalus ORPHA:3376
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Patent ductus arteriosus, Spin... OMIM:256520
Fibular Hemimelia
Spina bifida ORPHA:93323
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Patent ductus arteriosus, Spina bifida, Thin corpus call... OMIM:619480
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Myelomeningocele, Abnormality of the spinal cord, Spina bifida... ORPHA:2369
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia, Patent ductus arteriosus ORPHA:2092
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Calcification of falx cerebri OMIM:109400
Nail-Patella Syndrome
Spina bifida OMIM:161200
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Patent ductus arteriosus, Dural ectasia, Umbilical hernia OMIM:130720
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly OMIM:234100
Pagod Syndrome
Meningocele, Spina bifida, Microcephaly ORPHA:991
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus... ORPHA:508498
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Anterior pituitary hypoplasia, Hypopituitarism, Ag... ORPHA:1827
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Umbilical hernia, Microcephaly ORPHA:2311
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Dural ectasia, Spina bifida, Hydrocephalus, Decreased response to growth hormone sti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Dural ectasia, Spina bifida, Hydrocephalus, Decreased response to growth hormone sti... ORPHA:363958
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Jacobsen Syndrome
Pachygyria, Spina bifida, Agenesis of corpus callosum, Cerebral atrophy ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Cavum septum pellucidum, Spina bifida OMIM:274000
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Patent ductus arteriosus, Spina bifida,... ORPHA:567
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia ORPHA:2789
Holoprosencephaly
Holoprosencephaly, Branchial anomaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, P... ORPHA:2162
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Split Cord Malformation
Meningocele, Hydromyelia, Myelomeningocele, Syringomyelia, Hydrocephalus, Cervical spina bifida, ... ORPHA:573278
Fanconi Anemia
Patent ductus arteriosus, Spina bifida, Hydrocephalus, Umbilical hernia, Microcephaly ORPHA:84
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Myelomeningocele, Microcephaly ORPHA:94065
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Colpocephaly, Abnormal corpus callosum morphology, Absent s... ORPHA:397715
Phaver Syndrome
Myelomeningocele ORPHA:2876
Vater/Vacterl Association
Patent urachus, Tethered cord, Spina bifida, Patent ductus arteriosus OMIM:192350
Sacral Defect With Anterior Meningocele
Meningocele OMIM:600145
Cartilage-Hair Hypoplasia
Spinal dysraphism ORPHA:175
Non-Syndromic Anorectal Malformation
Tethered cord, Syringomyelia, Myelomeningocele ORPHA:557
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hypothalamic hamartoma, Porencephalic cyst, Hydroce... OMIM:311200
Lathosterolosis
Meningocele, Microcephaly, Cerebral calcification ORPHA:46059
Trisomy 8Q
Myelomeningocele ORPHA:1752
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Microcephaly ORPHA:322
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele ORPHA:90652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Microcephaly, Spinal dysraphism, Large placenta, Lissencephaly ORPHA:96334
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Joubert Syndrome 1
Occipital myelomeningocele, Microcephaly OMIM:213300
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Lathosterolosis
Myelomeningocele, Microcephaly, Cerebral atrophy OMIM:607330
Arima Syndrome
Occipital meningocele OMIM:243910
Oeis Complex
Tethered cord, Hydrocephalus, Myelomeningocele OMIM:258040
Marfan Syndrome
Meningocele, Dural ectasia ORPHA:558
Focal Dermal Hypoplasia
Agenesis of corpus callosum, Myelomeningocele, Hydrocephalus, Spina bifida occulta, Umbilical her... OMIM:305600
Fraser Syndrome 1
Abnormal cortical gyration, Hydrocephalus, Myelomeningocele, Microcephaly OMIM:219000
Fraser Syndrome
Microcephaly, Umbilical hernia, Myelomeningocele ORPHA:2052
Tibial Hemimelia
Myelomeningocele ORPHA:93322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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.

No publications found that use IMPC mice or data for Ambra1.

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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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