STRAIN INFORMATION
Family Identifier
 NMF243
Synonym(s)
 Agtpbp1nmf243; Agtpbp1pcd-6J; C57BL/6J-Agtpbp1pcd-6J; JR#5011
Synopsis
 The mutants are ataxic.
Gene Symbol
 Agtpbp1 (View MGI Record)
Gene
 ATP/GTP binding protein 1
Allele Symbol
 Agtpbp1nmf243 (View MGI Record)
Allele
 neurocience mutagenesis facility243
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Visible Mutants ; Movement/Neuromuscular Function

Assay: Eye histology

   Domain(s): Histology
Phenotype Description
 Two ataxic G3 mice were observed, and found to be non-productive, i.e. ovarian transplants and in vitro-fertilization efforts were unsuccessful. However, because of the similarity of their overt phenotype to Agtpbp1pcd (ATP/GTP binding protein 1, Purkinje cell degeneration) mutants, a complementation test with Agtpbp1pcd/+ was conducted (JR #537 B6.BR-Agtpbp1pcd/+). The results of 2 heterozygote by heterozygote matings, i.e. 3 affected mice in a total of 9 progeny, suggest that NMF243 represents an allele of Agtpbp1pcd. These heterozygotes eventually became non-productive (at approximately 18 months of age) and NMF243 mice are therefore not available 'live'. Pooled sperm of a G1 and a heterozygous male was used for in vitro fertilization; the resulting embryos were cryopreserved and can be made available on request.
Pathology Report
 Standard pathology work-up on four mutants (31 - 153 days of age) revealed a loss of Purkinje cells in the cerebellum. In addition, a loss of mitral cells in the olfactory bulb, and degeneration of the ventral root of the spinal cord were noted in the older animal. Some small muscle fibers, as well as retinal degeneration with only seven layers of cells in the outer nuclear layer were also observed in this animal. One male animal (61 days of age) showed atrophic testes with no sperm production.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Unknown
Heritability Status
 Not Proven; mode of heritability has not been determined as the NMF was unable to establish a colony.
Chromosome
 13
Molecular Interval
 see Agtpbp1
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 Please note: NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For further information about the availability of NMF243, please inquire at srp@jax.org or nmf-mice@jax.org.
Contact e-Mail Address
 nmf-mice@jax.org