Cyfip1^l7Rl1-2R
Chemically induced Allele Detail

Summary

• Symbol: Cyfip1^l7Rl1-2R
• Name: cytoplasmic FMR1 interacting protein 1; 2 Oak Ridge
• MGI ID: MGI:3689298
• Synonyms: 785DSJ, Cyfip1^ENU2R
• Gene: Cyfip1 Location: Chr7:55491556-55582381 bp, + strand Genetic Position: Chr7, 33.42 cM, cytoband B5
• Alliance: Cyfip1^l7Rl1-2R page

Mutation origin

• Strain of Origin: Mixed stock

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was isolated at The Oak Ridge National Laboratory. A single nucleotide substitution was found in genomic DNA. A C-to-T change at the exon 27/intron 27 boundary results the in-frame exon skipping of the last45 bp of exon 27 in the encoded mRNA. (J:163586)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Cyfip1^l7Rl1-2R/Cyfip1^l7Rl1-2R	Mixed stock

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
embryo	√
abnormal rostral-caudal body axis extension	√
open neural tube	√
kinked neural tube	√
delayed somite formation	√
impaired somite development	√
mortality/aging	√
prenatal lethality, complete penetrance	√
embryonic lethality between somite formation and embryo turning, complete penetrance	√
nervous system	√
open neural tube	√
kinked neural tube	√

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

Expression

In Structures Affected by this Mutation:

2 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 Cyfip1 Mutation: 75 strains or lines available

References

• Original: J:100221 Oak Ridge National Laboratory, Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN. Unpublished. 2005-11
• All: 2 reference(s)