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Phenotypes Associated with This Genotype
Genotype
MGI:3514129
Allelic
Composition
Pank2tm1Jgt/Pank2tm1Jgt
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pank2tm1Jgt mutation (0 available); any Pank2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

behavior/neurological
N
• unlike in the human syndrome, no evidence of neurological impairment is seen in mutants up to 16 months old
• constriction of the pupil in response to light is slower and incomplete compared to wild-type littermates

endocrine/exocrine glands
• mature (6 weeks) but not immature (3 weeks) mutants have smaller testes compared to wild-type mice of the same age

growth/size/body
• decreased body weight to about 80% of wild-type is seen from 3 to 56 weeks of age, however no difference in food intake is seen

reproductive system
• mature (6 weeks) but not immature (3 weeks) mutants have smaller testes compared to wild-type mice of the same age
• spermatogenesis arrests at the round spermatid stage and round spermatids accumulate vacuoles
• homozygous females mated to wild-type males produce smaller litters
• homozygous females mated to wild-type males produce smaller litters

vision/eye
• constriction of the pupil in response to light is slower and incomplete compared to wild-type littermates
• the rod inner segment is thinner
• the rod outer segment is thinner and vacuoles are seen in the outer segment
• fewer cells are seen in the outer nuclear layer which contains the cell bodies of both the rods and cones
• progressive retinal impairment is seen in electrorectinography and as gross abnormalities in the retinal layers at P411

nervous system
N
• unlike in the human syndrome, no evidence of iron accumulation is seen by MRI or Perls-DAB staining is seen in mutants up to 16 months old
• the rod inner segment is thinner
• the rod outer segment is thinner and vacuoles are seen in the outer segment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT pantothenate kinase-associated neurodegeneration DOID:3981 OMIM:234200
J:94753


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory