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Phenotypes Associated with This Genotype
Genotype
MGI:5556400
Allelic
Composition
Tinf2tm2.2Tdl/Tinf2+
Genetic
Background
involves: BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tinf2tm2.2Tdl mutation (0 available); any Tinf2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• seizures are observed in 2/14 mice

cellular
• gradual and progressive shortening of telomeres over three generations
• increase in incidence of fragile telomeres in the bone marrow of G3 mice

endocrine/exocrine glands
• subset of seminiferous tubules exhibit complete atrophy in 2/10 males from G2 and G3 generations
• partial testicular atrophy observed in 2/10 males from G2 and G3 generations

hematopoietic system
• mild hyperplasia in the bone marrow is observed in 1/14 mice
• mild pancytopenia affecting all hematopoietic lineages in G2 and G3 generations

immune system
• mild hyperplasia in the bone marrow is observed in 1/14 mice
• follicular lymphoid hyperplasia is observed in 2/14 mice
• skin dermatitis with neutrophilic serocellular crusting is observed in 2/14 mice

integument
• skin dermatitis with neutrophilic serocellular crusting is observed in 2/14 mice

nervous system
• seizures are observed in 2/14 mice
• moderate hydrocephalus is observed in 1/14 mice
• focal gliosis of white and grey matter in spinal cord is observed in 1/14 mice

reproductive system
• subset of seminiferous tubules exhibit complete atrophy in 2/10 males from G2 and G3 generations
• partial testicular atrophy observed in 2/10 males from G2 and G3 generations
• fertility is diminished over multiple generations of breeding

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dyskeratosis congenita DOID:2729 OMIM:PS127550
J:207367


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
11/12/2024
MGI 6.24
The Jackson Laboratory