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Gene: Atg14 MGI:1261775

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Gene Summary

Name:
autophagy related 14
Synonyms:
D14Ertd436e,  Barkor,  D14Ertd114e

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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
enlarged testis Atg14em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Atg14em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Atg14em1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitreous body morphology Atg14em1(IMPC)Mbp HET Early adult 7.12×10-05
persistence of hyaloid vascular system Atg14em1(IMPC)Mbp HET Early adult 1.09×10-08
cataract Atg14em1(IMPC)Mbp HET Early adult 7.52×10-05
abnormal skin morphology Atg14em1(IMPC)Mbp HET 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 Whole Body Dorso Ventral

39 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Atg14 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 Atg14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Partington Syndrome
Macroorchidism ORPHA:94083
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom... ORPHA:231736
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Cataract 42
Cataract, Developmental cataract OMIM:115900
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Fragile X Syndrome
Macroorchidism ORPHA:908
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy OMIM:613731
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epithelial atrophy, C... OMIM:611040
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retinal pigmentation, C... ORPHA:3085
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... ORPHA:562
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Optic disc pallor OMIM:613730
Trisomy 20P
Cryptorchidism, Hypospadias, Macroorchidism ORPHA:261318
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic post... OMIM:610125
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Macular atro... OMIM:212550
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Goiter, Increased circulating prolactin concentrati... ORPHA:90674
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy OMIM:300578
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Microphthalmia With Brain And Digit Anomalies
Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, Iris coloboma ORPHA:139471
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Cataract 47
Cataract, Microcornea OMIM:612018
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr... OMIM:614225
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Pi... ORPHA:1359
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Aniridia 3
Cataract, Aniridia OMIM:617142
Proteus Syndrome
Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattachment, Enlarged p... ORPHA:744
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Exudative Vitreoretinopathy 6
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... OMIM:616468
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... OMIM:612109
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... ORPHA:263479
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Coloboma, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Aspartylglucosaminuria
Cataract, Macroorchidism OMIM:208400
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Microphthalmia, Syndromic 3
Hypospadias, Optic nerve hypoplasia, Coloboma, Anterior pituitary hypoplasia, Optic nerve aplasia... OMIM:206900
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170

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.

Phenotype Allele Zygosity Sex Life Stage
Skin - MPATH pathological process term hyperplasia Atg14em1(IMPC)Mbp HET Early adult
Skin - MPATH pathological process term inflammation Atg14em1(IMPC)Mbp HET Early adult

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 Atg14.

No publications found that use IMPC mice or data for Atg14.

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
Atg14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atg14em1(IMPC)Mbp Exon Deletion Mice, Tissue

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