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Frem2em2Hali
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Frem2em2Hali
Name: Fras1 related extracellular matrix protein 2; endonuclease-mediated mutation 2, Haotian Lin
MGI ID: MGI:6389578
Synonyms: Frem2R2156W
Gene: Frem2  Location: Chr3:53421359-53564776 bp, - strand  Genetic Position: Chr3, 25.24 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRIPSR/Cas9 technology generated an A to T mutation at position 6466 resulting in an arginine to tryptophan change at amino acid 2156 (R2156W). This mutation corresponds to the R2167W (c.6499C>T) mutation seen in a cryptophthalmos patient. (J:279933)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 21 assay results
In Structures Affected by this Mutation: 8 anatomical structures
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 Frem2 Mutation:  90 strains or lines available
References
Original:  J:279933 Zhang X, et al., Loss-of-function mutations in FREM2 disrupt eye morphogenesis. Exp Eye Res. 2019 Apr;181:302-312
All:  2 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
11/23/2021
MGI 6.17
The Jackson Laboratory