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Frem2ne
Spontaneous Allele Detail
Nomenclature
Symbol: Frem2ne
Name: Fras1 related extracellular matrix protein 2; no eyelid
MGI ID: MGI:3794302
Gene: Frem2  Location: Chr3:53513938-53657355 bp, - strand  Genetic Position: Chr3, 25.24 cM
Frem2ne/Frem2ne mice exhibit eyelid, eye, digit, ear and coat color abnormalities

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  STOCK Tg(CAG-Bgeo/GFP)21Lbe/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous G-to-A mutation at position 53,547,675 (GRCm38) causes an alanine to valine substitution at residue 2160 in the fourth Calx-beta domain. (NM_172862.3:c.6479C>T, p.Ala2160Val) (J:185265, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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 Frem2 Mutation:  5 strains or lines available
References
Original:  J:136583 Curtain MM, et al., A Spontaneous Mouse Strain with Cryptophthalmos. MGI Direct Data Submission. 2008;
All:  5 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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last database update
06/30/2020
MGI 6.15
The Jackson Laboratory