Ins2<Akita> Spontaneous Allele Detail MGI Mouse (MGI:1857572)

Ins2^Akita
Spontaneous Allele Detail

Nomenclature

Symbol:	Ins2^Akita
Name:	insulin II; Akita
MGI ID:	MGI:1857572
Synonyms:	Ins2^C96Y, Ins2^Mody, Mody, Mody4
Gene:	Ins2 Location: Chr7:149864561-149885415 bp, - strand Genetic Position: Chr7, 69.1 cM

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	In the mutant allele a transition from G to A at nucleotide 1907 disrupted an Fnu4HI site in exon 3. This mutation changed the seventh amino acid in the A chain of mature insulin, Cys96 (TGC), to Tyr (TAC). The authors predict that the transition would disrupt a disulfide bond between the A and the B chains and would likely induce a major conformational change in insulin 2 molecules. RT-PCR studies suggest that both normal and mutant Ins2 alleles are transcribed similarly in pancreatic islets of heterozygous mice, although immunofluorescence and immunoblot analyses of heterozygous islets detected reduced levels of insulin and proinsulin. (J:51935)
Inheritance:	Dominant

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 8 strains available Cell Lines: 0 lines available
Carrying any Ins2 Mutation:	15 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems

Genotypes:

adipose tissue

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behavior/neurological

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cardiovascular system

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cellular

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digestive/alimentary system

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endocrine/exocrine glands

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growth/size

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hematopoietic system

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homeostasis/metabolism

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immune system

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lethality/postnatal

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life span/aging

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nervous system

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renal/urinary system

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reproductive system

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skeleton

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skin/coat/nails

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vision/eye

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Disease Models

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Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1 Disease Model

Ins2^Akita/Ins2^Akita

C57BL/6-Ins2^Akita

hm2 Disease Model

Ins2^Akita/Ins2^Akita

C57BL/6-Ins2^Akita/J

ht3 Disease Model

Ins2^Akita/Ins2⁺

C57BL/6-Ins2^Akita

ht4 Disease Model

Ins2^Akita/Ins2⁺

C57BL/6-Ins2^Akita/J

ht5

Ins2^Akita/Ins2⁺

involves: C3H * C57BL/6NJcl * C57BL/6NSlc

cx6

Bdkrb2^tm1Jfh/Bdkrb2^tm1Jfh
Ins2^Akita/Ins2⁺

B6.129S7-Ins2^Akita Bdkrb2^tm1Jfh

cx7

Gast^tm1(INS)Ez/Gast⁺
Ins2^Akita/Ins2⁺

involves: 129S4/SvJae * C57BL/6

cx8

Dbm1^A/J/Dbm1^A/J
Ins2^Akita/Ins2⁺

involves: A/J * C57BL/6J

cx9

Dbm3^C57BL/6J/?
Ins2^Akita/Ins2⁺

involves: A/J * C57BL/6J

cx10

Dbm4^C57BL/6J/?
Ins2^Akita/Ins2⁺

involves: A/J * C57BL/6J

cx11

Ins2^Akita/Ins2^Akita
Prf1^tm1Sdz/Prf1^tm1Sdz
Rag1^tm1Mom/Rag1^tm1Mom

NOD.Cg-Rag1^tm1Mom Ins2^Akita Prf1^tm1Sdz

cx12

Ins2^Akita/Ins2⁺
Prf1^tm1Sdz/Prf1^tm1Sdz
Rag1^tm1Mom/Rag1^tm1Mom

NOD.Cg-Rag1^tm1Mom Ins2^Akita Prf1^tm1Sdz

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
Mouse Models of Human Disease	Note		Allelic Composition	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases not associated with human INS.
Diabetes Mellitus, Insulin-Dependent, 2 OMIM ID: 125852		ht4	Ins2^Akita/Ins2⁺	C57BL/6-Ins2^Akita/J	J:76224
Diabetes Mellitus, Insulin-Dependent, 2 OMIM ID: 125852		hm2	Ins2^Akita/Ins2^Akita	C57BL/6-Ins2^Akita/J	J:76224
Diabetes Mellitus, Permanent Neonatal; PNDM OMIM ID: 606176		hm1	Ins2^Akita/Ins2^Akita	C57BL/6-Ins2^Akita	J:47883
Maturity-Onset Diabetes of the Young; MODY OMIM ID: 606391		ht3	Ins2^Akita/Ins2⁺	C57BL/6-Ins2^Akita	J:40063
Maturity-Onset Diabetes of the Young; MODY OMIM ID: 606391		ht4	Ins2^Akita/Ins2⁺	C57BL/6-Ins2^Akita/J	J:99412

References

Original:	J:40063 Yoshioka M et al., "A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice." Diabetes 1997 May;46(5):887-94
All:	43 reference(s)

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