Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hyaluronan and proteoglycan link protein 2
Synonyms:
Bral1,  4930401E20Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hapln2 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 Hapln2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occult Macular Dystrophy
Abnormal multifocal electroretinogram OMIM:613587
Usher Syndrome, Type I
Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram OMIM:165510
X-Linked Retinoschisis
Abnormal electroretinogram ORPHA:792
Optic Atrophy 5
Abnormality of pattern visual evoked potentials OMIM:610708
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram OMIM:153700
Sorsby Fundus Dystrophy
Abnormal electroretinogram OMIM:136900
Retinitis Pigmentosa 31
Abnormal electroretinogram OMIM:609923
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Optic Atrophy 8
Abnormality of pattern visual evoked potentials OMIM:616648
Retinitis Pigmentosa 39
Abnormal electroretinogram OMIM:613809
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:1933
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:2971
Canavan Disease
Abnormality of visual evoked potentials ORPHA:141
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Undetectable electroretinogram ORPHA:1947
Bothnia Retinal Dystrophy
Abnormal electroretinogram OMIM:607475
Progressive Cone Dystrophy
Abnormal electroretinogram ORPHA:1871
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Abnormal electroretinogram OMIM:616875
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abnormal electroretinogram OMIM:125310
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials OMIM:256600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormal electrooculogram OMIM:179840
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormal electroretinogram ORPHA:1574
Blue Cone Monochromatism
Abnormal electroretinogram ORPHA:16
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials ORPHA:436245
Mepan Syndrome
Abnormality of visual evoked potentials ORPHA:508093
Krabbe Disease
Abnormal flash visual evoked potentials OMIM:245200
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials ORPHA:168491
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials ORPHA:163961
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials OMIM:601152
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials OMIM:601338
Retinal Cone Dystrophy 1
Abnormal electroretinogram OMIM:180020
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormal electroretinogram ORPHA:2246
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials ORPHA:52368
Peho Syndrome
Undetectable visual evoked potentials OMIM:260565
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials OMIM:618195
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials ORPHA:98755
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials ORPHA:702
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials ORPHA:35069
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials OMIM:125250
Retinitis Pigmentosa 54
Abnormal electroretinogram OMIM:613428
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram OMIM:613216
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials ORPHA:480898
White-Sutton Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram OMIM:616364
Choroideremia
Abnormal electroretinogram ORPHA:180
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Infantile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206436
Micro Syndrome
Abnormality of visual evoked potentials ORPHA:2510
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Friedreich Ataxia
Abnormality of visual evoked potentials OMIM:229300
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram ORPHA:166035
Ã…land Islands Eye Disease
Abnormal electroretinogram ORPHA:178333
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Mpdu1-Cdg
Undetectable visual evoked potentials ORPHA:79323
Retinitis Pigmentosa 7
Abnormal electroretinogram OMIM:608133
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials ORPHA:309263
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials ORPHA:423479
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram ORPHA:1369
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Retinitis Pigmentosa 50
Abnormal electroretinogram OMIM:613194
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram ORPHA:2743
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials ORPHA:309271
Retinitis Pigmentosa 4
Abnormal electroretinogram OMIM:613731
Warburg Micro Syndrome 2
Undetectable visual evoked potentials OMIM:614225
Retinitis Pigmentosa 19
Abnormal electroretinogram OMIM:601718
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials ORPHA:79430
Usher Syndrome Type 3
Abnormal electroretinogram ORPHA:231183
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Van Den Bosch Syndrome
Abnormal electroretinogram ORPHA:3417
Usher Syndrome Type 1
Abnormal electroretinogram ORPHA:231169
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials ORPHA:2822
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials OMIM:259720
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials OMIM:216400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram ORPHA:1154
Leber Congenital Amaurosis
Abnormal electroretinogram ORPHA:65
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal electroretinogram ORPHA:1390
Mohr-Tranebjaerg Syndrome
Abnormal electroretinogram OMIM:304700
Retinitis Pigmentosa 45
Abnormal electroretinogram OMIM:613767
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials ORPHA:667
Retinitis Pigmentosa
Abnormal electroretinogram ORPHA:791
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials OMIM:252010
Developmental And Epileptic Encephalopathy 28
Abnormal electroretinogram OMIM:616211
Vitreoretinopathy, Neovascular Inflammatory
Abnormal electroretinogram OMIM:193235
Arthrogryposis, Distal, Type 5
Abnormal electroretinogram OMIM:108145
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormal electroretinogram ORPHA:1173
Joubert Syndrome 3
Abnormal electroretinogram OMIM:608629
Retinitis Pigmentosa 43
Abnormal electroretinogram OMIM:613810
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal electroretinogram ORPHA:5
Mucolipidosis Type Iv
Abnormal electroretinogram ORPHA:578
Usher Syndrome Type 2
Abnormal electroretinogram ORPHA:231178
Cone-Rod Dystrophy 2
Abnormal electroretinogram OMIM:120970
Maternal Uniparental Disomy Of Chromosome 6
Abnormal electroretinogram ORPHA:96181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Enlarged flash visual evoked potentials, Decreased light- and dark-adapted electroretinogram ampl... OMIM:253280
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Abnormal electroretinogram ORPHA:542306
Machado-Joseph Disease
Abnormal electrooculogram OMIM:109150
Bardet-Biedl Syndrome
Abnormal electroretinogram ORPHA:110
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal electroretinogram OMIM:614195
Usher Syndrome
Abnormal electroretinogram ORPHA:886
Peroxisome Biogenesis Disorder 1A (Zellweger)
Abnormal electroretinogram OMIM:214100
Congenital Fibrosis Of Extraocular Muscles
Abnormal electroretinogram ORPHA:45358
Acute Zonal Occult Outer Retinopathy
Abnormal electroretinogram ORPHA:284454
Cockayne Syndrome
Abnormal electroretinogram ORPHA:191
Degcags Syndrome
Abnormal electroretinogram OMIM:619488
Neurofibromatosis Type 1
Abnormal electroretinogram ORPHA:636

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 Hapln2

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 Hapln2.

No publications found that use IMPC mice or data for Hapln2.

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
Hapln2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hapln2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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