Gene Summary

Name:
laminin, alpha 1
Synonyms:
Lama

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
increased circulating alanine transaminase level Lama1tm2b(EUCOMM)Hmgu HET Early adult 1.44×10-10
increased startle reflex Lama1tm2b(EUCOMM)Hmgu HET   Early adult 2.19×10-05
persistence of hyaloid vascular system Lama1tm2b(EUCOMM)Hmgu HET Early adult 7.99×10-08
decreased exploration in new environment Lama1tm2b(EUCOMM)Hmgu HET   Early adult 5.31×10-05
abnormal lens morphology Lama1tm2b(EUCOMM)Hmgu HET   Early adult 2.42×10-08
abnormal retina morphology Lama1tm2b(EUCOMM)Hmgu HET Early adult 2.15×10-07
preweaning lethality, complete penetrance Lama1tm2b(EUCOMM)Hmgu HOM   Early adult 5.65×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Immunophenotyping

Panel A FCS file(s)

6 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Lama1 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.

The table below shows human diseases associated to Lama1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022

The table below shows human diseases predicted to be associated to Lama1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Congenital Glaucoma
Retinal detachment ORPHA:98976
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Peripheral retinal av... ORPHA:891
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Choroidal neovascularization, Abnormal chorioretinal morph... ORPHA:179
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re... ORPHA:94058
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Nephronophthisis 14
Retinal degeneration OMIM:614844
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Maternal Uniparental Disomy Of Chromosome 9
Retinal dysplasia ORPHA:96183
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Coloboma Of Macula
Macular coloboma OMIM:120300
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:616648
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Abnorma... ORPHA:1215
Exudative Vitreoretinopathy 6
Retinal detachment, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Post... OMIM:616468
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma OMIM:617662
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy, Gliosis OMIM:256600
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:601152
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion OMIM:107320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy OMIM:245200
Cutis Marmorata Telangiectatica Congenita
Retinal detachment OMIM:219250
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy ORPHA:485421
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Optic atrophy OMIM:601338
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... ORPHA:309246
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia OMIM:272800
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:52368
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Friedreich Ataxia
Abnormality of visual evoked potentials, Optic atrophy OMIM:229300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Cerebellar gliosis, Optic atrophy ORPHA:35069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Optic atrophy OMIM:231550
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Optic atrophy OMIM:616881
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... OMIM:253800
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir... ORPHA:637
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Optic nerve hypoplasia, Short attention span OMIM:617864
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Cherry red spot of the macula, Optic atrophy ORPHA:206436
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
White-Sutton Syndrome
Abnormality of visual evoked potentials, Iris coloboma, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309271
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Mogs-Cdg
Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cataract OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Pigmentary retinopathy, Abno... OMIM:216400
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Optic atrophy, Hypermy... ORPHA:909
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Hypoasparaginemia OMIM:615574
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Cognitive impairment OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Cockayne Syndrome B
Abnormality of visual evoked potentials, Pigmentary retinopathy, Optic atrophy OMIM:133540
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Astrocytosis ORPHA:258
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Gliosis, Astrocytosis OMIM:203700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522

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 Lama1

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 Lama1.

No publications found that use IMPC mice or data for Lama1.

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
Lama1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lama1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lama1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lama1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lama1tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter