Mfrp<rd6> Spontaneous Allele Detail MGI Mouse (MGI:1888705)

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Mfrp^rd6
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Mfrp^rd6
Name:	membrane frizzled-related protein; retinal degeneration 6
MGI ID:	MGI:1888705
Gene:	Mfrp Location: Chr9:44013067-44020484 bp, + strand Genetic Position: Chr9, 24.6 cM
Alliance:	Mfrp^rd6 page

Mutation
origin

Strain of Origin:

C3fBAnl.Cg-Cat^b/AnlJ

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: The rd6 mutation was identified as a 4 bp deletion in the splice donor sequence of intron 4 in the Mfrp gene. The mutation results in the skipping of exon 4. While the mutation does not cause a frameshift, 58 amino acids are deleted from the protein. (J:78123)
Inheritance:		Recessive

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Mfrp Mutation:	27 strains or lines available

References

Original:	J:64087 Hawes NL, et al., Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2000 Sep;41(10):3149-57
All:	13 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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