Gene Summary

Name:
leucine-rich repeats and calponin homology (CH) domain containing 2
Synonyms:
N/A

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
decreased locomotor activity Lrch2em1(IMPC)Mbp HOM Early adult 9.89×10-05
abnormal eye morphology Lrch2em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Lrch2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

Histopathology

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Human diseases caused by Lrch2 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 Lrch2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Anophthalmia ORPHA:411986
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Cockayne Syndrome Type 2
Difficulty walking, Ataxia, Gait disturbance, Anophthalmia ORPHA:90322
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Cockayne Syndrome Type 1
Difficulty walking, Ataxia, Gait disturbance, Anophthalmia ORPHA:90321
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Fibular Hemimelia
Difficulty walking, Anophthalmia ORPHA:93323
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Joubert Syndrome 21
Ataxia, Anophthalmia OMIM:615636
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Meckel Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:564
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Lrch2

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 Lrch2.

No publications found that use IMPC mice or data for Lrch2.

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MGI Allele Allele Type Produced
Lrch2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Lrch2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrch2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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