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Gene: Atg9b MGI:2685420

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Gene Summary

Name:
autophagy related 9B
Synonyms:
eONE,  Nos3as,  LOC213948,  Apg9l2

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
abnormal eye morphology Atg9btm1b(KOMP)Mbp HOM Early adult 0.00
anophthalmia Atg9btm1b(KOMP)Mbp HOM Early adult 0.00
absent optic nerve Atg9btm1b(KOMP)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Atg9btm1b(KOMP)Mbp HOM Early adult 1.64×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

18 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 Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Atg9b 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 Atg9b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia/Coloboma 10
Optic pit, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal detachment, M... OMIM:615181
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:610125
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Walker-Warburg Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal circulating creatine kinase concentratio... ORPHA:899
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular morphology... ORPHA:3378
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Anophthalmia, Chorioretinal coloboma, Microphthalmia ORPHA:139471
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinemia, Optic nerve hypoplasia OMIM:238700
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Facial diplegia, Decreased sensory nerve conduction... OMIM:617302
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Microphtha... ORPHA:370959
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Optic nerve hypoplasia OMIM:620502
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Anophthalmia, Abnormality of peripheral nerve conduction, ... ORPHA:90321
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Hyperammonemia, Optic nerve hypoplasia OMIM:620609
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Cerebral Visual Impairment
Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ... ORPHA:447788
Trisomy 1Q
Anophthalmia ORPHA:261344
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Aniridia, Abnormal optic nerve morphology, Anophthalmia ORPHA:1101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... OMIM:614643
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinopathy, Abnormality of retinal... ORPHA:2526
Phace Association
Optic atrophy, Increased retinal vascularity, Horner syndrome, Microphthalmia, Optic nerve hypopl... OMIM:606519
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Joubert Syndrome 21
Optic atrophy, Retinopathy, Anophthalmia, Megalopapilla OMIM:615636
Aniridia 1
Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Aniridia, Hy... OMIM:106210
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Anophthalmia, Microphthalmia ORPHA:3412
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Optic nerve hypoplasia OMIM:220120
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia OMIM:301056
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal atrophy, Retinal detac... OMIM:236670
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Holoprosencephaly
Optic atrophy, Chorioretinal coloboma, Retinopathy, Anophthalmia, Hyponatremia, Microphthalmia ORPHA:2162
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia OMIM:222765
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Abnormally large globe, Retinal coloboma, Optic nerve hypoplasia OMIM:300749
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Fibular Hemimelia
Anophthalmia ORPHA:93323
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Abnormal chorioretin... ORPHA:564
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormality of retinal pigmentation, Abnormal vitreous humor morphology, Chorioreti... ORPHA:2556
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:101085
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Optic nerve hypoplasia ORPHA:141099
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Facial palsy, Optic nerve hypoplasia ORPHA:261349
White-Sutton Syndrome
Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia ORPHA:300570
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Stromme Syndrome
Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia OMIM:243605
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Abnormal cranial nerve morphology, Anophthalmia, Microphth... ORPHA:138
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Asparagine Synthetase Deficiency
Hypoasparaginemia, Optic nerve hypoplasia OMIM:615574
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Attenuation of retinal blood vessels, Bilateral microphthalmos, Optic nerve hy... ORPHA:468631
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia OMIM:620029
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Microphthalmia OMIM:300166
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Microphthalmia, Facial palsy, Optic nerve hypop... ORPHA:508498
Focal Dermal Hypoplasia
Optic atrophy, Chorioretinal coloboma, Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Microphthalmia ORPHA:1106
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Azotemia, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Phace Syndrome
Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Charge Syndrome
Retinal coloboma, Unilateral microphthalmos, Hypocalcemia, Anophthalmia, Microphthalmia, Facial p... OMIM:214800
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:607932
Branchiooculofacial Syndrome
Retinal coloboma, Facial palsy, Anophthalmia, Microphthalmia OMIM:113620
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Optic nerve hypoplasia ORPHA:495875
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Microphthalmia, Syndromic 1
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Aganglionic megacolon, Microphthalmia OMIM:309800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Optic nerve hypoplasia OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia OMIM:620455
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia OMIM:619841

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 Atg9b

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 Atg9b.

No publications found that use IMPC mice or data for Atg9b.

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MGI Allele Allele Type Produced
Atg9btm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Atg9btm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atg9btm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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