Rs1<tm1.1Rom> Targeted Allele Detail MGI Mouse (MGI:6404913)

Rs1^tm1.1Rom
Targeted Allele Detail

Summary

Symbol:	Rs1^tm1.1Rom
Name:	retinoschisis (X-linked, juvenile) 1 (human); targeted mutation 1.1, Carmelo Romano
MGI ID:	MGI:6404913
Gene:	Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
Alliance:	Rs1^tm1.1Rom page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:285517
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	(129S6/SvEvTac x C57BL/6NTac)F1

Mutation
description

Allele Type:		Targeted (Null/knockout, Reporter)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Exons 1-3 were replaced with a lacZ reporter fused in-frame with the Rs1 start using Regeneron's VelociGene technology. A self-excising floxed-neomycin cassette was removed. Western blot analysis confirmed absence of protein in the retina. (J:285517)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available Cell Lines: 0 lines available
Carrying any Rs1 Mutation:	6 strains or lines available

References

Original:	J:285517 Liu Y, et al., Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype. Hum Mol Genet. 2019 Sep 15;28(18):3072-3090
All:	1 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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