Mouse Strain information
APB ID 29
Added 06/02/2006
Last Edited 10/05/2014
Strain name: 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 13
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: 19
Exon ID: ENSMUSE00000118960
cDNA position: 2543
Amino acid change: Arginine to STOP at position 804
Sequence:
2513GACATTTGTTACTACAAAAATCACTTCTCACGAAGCTCAGTTGCCGCAGGCGGACAGAAGGcDNA (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 B -D13Mit39 (24cM)
Babe A -D13Mit84 (4.4cM)
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
General information
Associated IP rights? No
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? No
MTA needs to be signed? Yes


   

 


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