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Mouse Strain information

APB ID

Added

06/02/2006

Last Edited

12/06/2014

Strain nomenclature:

C57BL/6JSfdAnu-Alms1bbb/AnuApb

Nickname:

Blobby

Strain designation name:

C57BL/6JSfdAnu-Alms1bbb/AnuApb

Genetics

Strain Types

Mutant strain
Coisogenic

Genetic Details

Chemically induced : ENU

Mode of Inheritance

Recessive

1. Affected Gene Name: Alstrom syndrome 1 homolog (human)

Chromosome

Affected Gene Symbol

Alms1

Protein expression of altered gene:

Unknown

Genetic alteration of gene:

ENU induced mutation

Location on chromosome (bp):

85537525-85652747 bp, + strand (From VEGA annotation of NCBI Build 37)

MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:1934606

Allele Name

blobby

Allele Symbol

Alms1bbb

MGI Allele Accession ID

MGI:3611799

Ensembl Gene ID:

ENSMUSG00000063810

Transcript ID:

ENSMUST00000072018

Transcript name:

Alms1-001

bp change:

T to A at position 6507 on cDNA

Exon number:

Exon ID:

ENSMUSE00000552223

cDNA position:

6507

Amino acid change:

Leucine to STOP at position 2130

Sequence:
6477	CTCTTCTTTCTGAAGGTCAGGATTATGAGTTAGAAGAGGTTCAGCATATACCTCAGTCATA	cDNA (forward strand)
2121	S--L--L--S--E--G--Q--D--Y--E--L--E--E--V--Q--H--I--P--Q--S--Y	protein

Version:

NCBI m37, Ensembl build 55

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Late onset obesity (apparent at 3-6 months). Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.

Original Genetic Background

C57BL/6JStdAnu

Genetic Background Currently Maintained

C57BL/6JStdAnu

Coat Colour

Black

Strain identification

How is this strain characterised?

Genotyping

PCR protocols

Blobby (amplifluor)
BLOBBY

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Does it Model a Human Condition?

Yes

Research value of this Strain

Models human obesity induced by alterations in Alms1 gene

Applicable Research Areas

Metabolism
Diabetes
Obesity

Keywords

ENU
spermatogenesis
kidney
hyperinsulinemia

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 13 mice)

APB stock genotyped verified by:

The APF

Are live mice available?

MTA needs to be signed?

Yes