C57BL/6JCya-Lrch2em1/Cya
Common Name:
Lrch2-KO
Product ID:
S-KO-04737
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Lrch2-KO
Strain ID
KOCMP-210297-Lrch2-B6J-VA
Gene Name
Product ID
S-KO-04737
Gene Alias
mKIAA1495
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lrch2em1/Cya mice (Catalog S-KO-04737) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112819
NCBI RefSeq
NM_001081173
Target Region
Exon 2~5
Size of Effective Region
~10.1 kb
Detailed Document
Overview of Gene Research
Lrch2, leucine-rich repeat and calponin homology domain-containing protein 2, likely has functions related to its leucine-rich repeat domain which is evolutionarily conserved. However, its exact function, associated pathways, and overall biological importance are still being explored, and genetic models could be valuable for further functional studies.
In a study, a unique missense mutation (p.Lys258Glu) in the Lrch2 gene was found in Family I with early-onset ataxia and cerebellar hypoplasia, inherited in an X-linked manner. This mutation occurs in an evolutionarily invariant site of the leucine-rich repeat domain of Lrch2. The Lrch2 gene for these patients, where congenital cerebellar hypoplasia was associated with demyelinating polyneuropathy, is expressed in Schwann and precursor Schwann cells and predominantly over its paralogous genes in the developing cerebellar cortex [1].
In conclusion, the findings suggest that Lrch2 may play a role in the development of the cerebellar cortex and Schwann cells, and its mutation is associated with early-onset ataxia with cerebellar hypoplasia and demyelinating polyneuropathy. The study of Lrch2 using genetic models can potentially provide more insights into these neurological disease conditions.
References:
1. Protasova, Maria S, Gusev, Fedor E, Andreeva, Tatiana V, Illarioshkin, Sergey N, Rogaev, Evgeny I. 2022. Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. In European journal of human genetics : EJHG, 30, 703-711. doi:10.1038/s41431-022-01088-9. https://pubmed.ncbi.nlm.nih.gov/35351988/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen