Gene Summary

Name:
aminoadipate-semialdehyde dehydrogenase
Synonyms:
A230062G08Rik

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
cataract Aasdhem1(IMPC)Tcp HOM   Early adult 7.39×10-05
abnormal eye morphology Aasdhem1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Aasdhem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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

Images Slit Lamp

102 Images

Eye Morphology

Images Ophthalmoscopy

104 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Aasdh 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 Aasdh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Galactosemia Iv
Cataract OMIM:618881
X-Linked Retinoschisis
Cataract ORPHA:792
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... ORPHA:2310
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Galactosemia Ii
Cataract OMIM:230200
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Cataract, Split hand OMIM:183800
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 47
Microcornea, Cataract OMIM:612018
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract OMIM:212540
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Small hand, Cataract OMIM:300261
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Aniridia And Absent Patella
Aniridia, Aplasia/Hypoplasia of the patella, Cataract OMIM:106220
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Aniridia 2
Aniridia, Cataract OMIM:617141
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Nathalie Syndrome
Cataract OMIM:255990
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Cataract, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... ORPHA:2725
Cataract 11, Multiple Types
Cataract OMIM:610623
Proximal Myotonic Myopathy
Cataract ORPHA:606
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Cataract, Delayed ossification of carpal bones, Short ... OMIM:127200
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Cataract ORPHA:2489
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Martsolf Syndrome 2
Developmental cataract, Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe OMIM:619420
Microcephalic Primordial Dwarfism, Toriello Type
Short middle phalanx of finger, Radial deviation of finger, Short foot, Short proximal phalanx of... OMIM:251190
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Fla... ORPHA:168549
Mietens Syndrome
Microcornea, Metatarsus adductus, Sclerocornea, Avascular necrosis of the capital femoral epiphys... ORPHA:2557
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 43
Subcapsular cataract OMIM:616279
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Abnormal rib morphology, Cataract, Brachydactyly ORPHA:2643
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Genu valgum ORPHA:1381
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Autosomal Recessive Stickler Syndrome
Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Cataract, Astigmatism ORPHA:250984
Metatropic Dysplasia
Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Halberd-shaped pelvis, Abnor... ORPHA:2635
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Pellagra-Like Syndrome
Cataract OMIM:260650
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Cataract, Short l... ORPHA:93296
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Dystonia, Juvenile-Onset
Cataract, Hypoplastic scapulae OMIM:607371
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Arachnodactyly, Lens subluxation ORPHA:171844
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Aniridia-Absent Patella Syndrome
Aniridia, Aplasia/Hypoplasia of the patella, Cataract ORPHA:1069
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Multiple Synostoses Syndrome 1
Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... OMIM:186500
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Weill-Marchesani Syndrome
Short thumb, Cataract, Brachydactyly, Ectopia lentis ORPHA:3449
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Sternum, Premature Obliteration Of Sutures Of
Short sternum OMIM:184800
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndactyly, Postaxial foot polyd... ORPHA:139471
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Nail-Patella Syndrome
Microcornea, Patellar aplasia, Hypoplastic radial head, Hypoplasia of first ribs, Iliac horns, Le... OMIM:161200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Metatarsus adductus, Absent hallux, Cataract, Microcornea, Absent toe OMIM:608279
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Craniorachischisis
Bifid sternum ORPHA:63260
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Abnormal thumb ... ORPHA:67036
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Short metacarpal, Drumstick terminal phalanges,... OMIM:303600

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 Aasdh

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 Aasdh.

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

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MGI Allele Allele Type Produced
Aasdhtm383462(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aasdhem1(IMPC)Tcp Exon Deletion Mice

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