Insr^M2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Insr^M2Btlr
• Name: insulin receptor; mutation 2, Bruce Beutler
• MGI ID: MGI:6268734
• Synonyms: Patently
• Gene: Insr Location: Chr8:3200922-3329649 bp, - strand Genetic Position: Chr8, 1.82 cM
• Alliance: Insr^M2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 3,159,475 (v38) on chromosome 8, or base pair 120,175 in the GenBank genomic region NC_000074 encoding Insr. The mutation corresponds to residue 4,096 in the mRNA sequence NM_010568 within exon 19 of 21 total exons. The mutation results in a phenylalanine to leucine substitution at position 1,203 (F1203L) in the INSR protein. (J:267535)
• Inheritance: Dominant

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Insr^M2Btlr/Insr^M2Btlr	C57BL/6J-Insr^M2Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
endocrine/exocrine glands	√
increased insulin secretion	√
homeostasis/metabolism	√
increased insulin secretion	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

1 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 Insr Mutation: 96 strains or lines available

References

• Original: J:267535 Turer E, et al., Mutagenetix entry for Patently. MGI Direct Data Submission. 2018
• All: 1 reference(s)