Adamtsl2^tm1Mtek
Targeted Allele Detail

Summary

• Symbol: Adamtsl2^tm1Mtek
• Name: ADAMTS-like 2; targeted mutation 1, Mustafa Tekin
• MGI ID: MGI:8243400
• Synonyms: R61H
• Gene: Adamtsl2 Location: Chr2:26969391-26998993 bp, + strand Genetic Position: Chr2, Syntenic
• Alliance: Adamtsl2^tm1Mtek page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:345629
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A G to A change at position 182 (c.G182A) resulting in an arginine to histidine substitution at amino acid 61 (p.R61H) was introduced in exon 3 via homologous recombination. This is a variant that was identified in a geleophysic dysplasia 1 patient who is compound heterozygous for two variants, p.R61H and p.A165T. Immunoblotting of lung lysates shows a reduction in the secreted glycosylated protein. (J:345629)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Adamtsl2 Mutation: 33 strains or lines available

References

• Original: J:345629 Camarena V, et al., ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia. JCI Insight. 2024 Feb 1;:e174417
• All: 1 reference(s)