Slc38a8^em1Lmon
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc38a8^em1Lmon
• Name: solute carrier family 38, member 8; endonuclease-mediated mutation 1, Lluis Montoliu
• MGI ID: MGI:7571247
• Synonyms: Slc38a8^emA8578/Lmon
• Gene: Slc38a8 Location: Chr8:120206341-120228437 bp, - strand Genetic Position: Chr8, 67.8 cM
• Alliance: Slc38a8^em1Lmon page

Mutation origin

• Strain of Origin: (C57BL/6 x CBA)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology using sgRNA 5-CAATACTACCTGTGGCCCC-3 generated a stop codon at proline 196 (p.196Pro*) in exon 4, which is equivalent to human p.199Pro*. This mutation closely resembles one of the first familial mutations reported in oveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA syndrome) patients that have a p.Gln200* mutation. (J:343795)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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 Slc38a8 Mutation: 30 strains or lines available

References

• Original: J:343795 Guardia A, et al., A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):32
• All: 1 reference(s)