Isl1^tm1Limli
Targeted Allele Detail

Summary

• Symbol: Isl1^tm1Limli
• Name: ISL1 transcription factor, LIM/homeodomain; targeted mutation 1, Limei Liu
• MGI ID: MGI:8375859
• Synonyms: Isl1^E283D, Isl1^{tm1(E283D)Smoc}
• Gene: Isl1 Location: Chr13:116434817-116446225 bp, - strand Genetic Position: Chr13, 64.87 cM, cytoband D2.3
• Alliance: Isl1^tm1Limli page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:387563
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (C57BL/6 x 129)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 283 (GAG) was changed to aspartic acid (GAT) (c.849G>T, p.E283D). The mutation, in the LHX3-binding domain inside the transactivation domain of the encoded protein, is the equivalent of the same human mutation associated with the development of type 2 diabetes and in mice causes a similar phenotype. (J:387563)
• Inheritance: Dominant

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Isl1 Mutation: 38 strains or lines available

References

• Original: J:387563 Zhang J, et al., Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes. Diabetologia. 2024 Aug;67(8):1698-1713
• All: 1 reference(s)