Frem2^ne
Spontaneous Allele Detail

Summary

• Symbol: Frem2^ne
• Name: Fras1 related extracellular matrix protein 2; no eyelid
• MGI ID: MGI:3794302
• Gene: Frem2 Location: Chr3:53421359-53564776 bp, - strand Genetic Position: Chr3, 25.24 cM
• Alliance: Frem2^ne page

Frem2^ne/Frem2^ne 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 details: This 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

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Frem2 Mutation: 137 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)