Lama1^nmf223
Chemically induced Allele Detail

Summary

• Symbol: Lama1^nmf223
• Name: laminin, alpha 1; neuroscience mutagenesis facility, 223
• MGI ID: MGI:4455292
• Gene: Lama1 Location: Chr17:68004254-68129642 bp, + strand Genetic Position: Chr17, 38.8 cM
• Alliance: Lama1^nmf223 page

Lama1^nmf223/Lama1^nmf223 mutants exhibit vitreal and retinal abnormalities

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An A to G missense mutation results in a tyrosine to cysteine mutation at the highly conserved amino acid 265, which lies in the end of the N-terminal domain. (J:160722)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

6 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 Lama1 Mutation: 186 strains or lines available

References

• Original: J:160722 Edwards MM, et al., Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. J Biol Chem. 2010 Mar 5;285(10):7697-711
• All: 5 reference(s)