Home - Australian Phenomics Facility

Mouse Strain information

APB ID

Added

06/02/2006

Last Edited

10/05/2014

Strain nomenclature:

C57BL/6JSfdAnu-Agtpbp1babe/AnuApb

Nickname:

Babe

Strain designation name:

C57BL/6JSfdAnu-Agtpbp1babe/AnuApb

Genetics

Strain Types

Mutant strain

Genetic Details

Chemically induced : ENU

Mode of Inheritance

Recessive

1. Affected Gene Name: ATP/GTP binding protein 1

Chromosome

Affected Gene Symbol

Agtpbp1

Protein expression of altered gene:

Unknown

Genetic alteration of gene:

ENU induced mutation.

Location on chromosome (bp):

59449537-59585227 bp, - strand From VEGA annotation of GRCm38

MGI Gene Accession ID

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

MGI:2159437

Synonyms

Nna1

Allele Name

ATP/GTP binding protein 1; babe

Allele Symbol

Agtpbp1babe

MGI Allele Accession ID

MGI:3847121

Ensembl Gene ID:

ENSMUSG00000021557

Transcript ID:

ENSMUST00000022040

Transcript name:

Agtpbp1-201

bp change:

C to T at position 2543 on cDNA

Exon number:

Exon ID:

ENSMUSE00000118960

cDNA position:

2543

Amino acid change:

Arginine to STOP at position 804

Sequence:
2513	GACATTTGTTACTACAAAAATCACTTCTCACGAAGCTCAGTTGCCGCAGGCGGACAGAAGG	cDNA (reverse strand)
795	-D--I--C--Y--Y--K--N--H--F--S--R--S--S--V--A--A--G--G--Q--K--	protein

Version:

NCBI m37, Ensembl build 55

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Lethal dilute ataxia, weakness of the hindlimbs and mild uncoordination (ataxia) which is usually detectable at weaning.

Original Genetic Background

C57BL/6JSfdAnu

Genetic Background Currently Maintained

C57BL/6JSfdAnu

Coat Colour

Black

Strain identification

How is this strain characterised?

Genotyping

PCR protocols

Babe A -D13Mit84 (4.4cM)
Babe B -D13Mit39 (24cM)

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

General information

Associated IP rights?

Does it Model a Human Condition?

Unknown

Applicable Research Areas

Neurobiology
Developmental biology
Internal/organ

Keywords

Ataxia
Purkinje cell
degeneration
retinal
ENU

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 7 mice)

APB stock genotyped verified by:

Unverified

Are live mice available?

MTA needs to be signed?

Yes