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Phenotypes Associated with This Genotype
Genotype
MGI:2655609
Allelic
Composition
Atf2tm1Glm/Atf2tm1Glm
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atf2tm1Glm mutation (1 available); any Atf2 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 51% of homozygous null mice survive past 1 month
• two waves of deaths occur: one within the initial 2 days of life and one near weaning
• the lifespan of surviving homozygotes is, however, normal

behavior/neurological
• homozygotes show a characteristic fine-amplitude whole-body tremor
• homozygotes exhibit decreased hind limb coordination
• homozygotes display abnormal twitches of the head
• homozygotes exhibit vertical head tossing

growth/size/body
• surviving homozygotes reach approximately 71% of the weight of sex-matched wild-type littermates
• surviving homozygotes are mildly to severely runted
• dwarfism is uniform, with the reduced spine length proportional to the shortened extremities

hearing/vestibular/ear
• significant reductions in numbers of vestibular sensory cells
• significant reductions in numbers of vestibular hair cell stereocilia
• the macula of utricle is atrophic, with significant reductions in numbers of sensory cells, stereocilia and otoconia
• the macula of the saccule is atrophic, with significant reductions in numbers of sensory cells, stereocilia and otoconia
• significant reductions in numbers of otoconia
• homozygotes display decreased hearing

immune system
• 50% of homozygotes spontaneously develop periocular neutrophilic/lymphocytic infiltrates
• in contrast to wild-type, homozygotes display poor induction of E-selectin three hours after intraperitoneal injection of LPS at doses up to 50 microg
• higher doses of LPS lead to equal induction of E-selectin mRNA in both genotypes

limbs/digits/tail
• the limb length decrease is rhizomelic, with more severe shortening in proximal bony segments than distal ones

skeleton
• in vivo labelling of cartilage cells with 3H-thymidine confirmed that growth-plate cartilage cell division is significantly reduced
• homozygotes lack normal-appearing cartilaginous trabeculae extending from the physes and have distinctly thin epiphyseal growth plates
• bones show disorganization in the sequence of endochondral ossification at epiphyseal growth plates
• homozygotes exhibit abnormal clusters of cells instead of ordered columns of chondrocytes, seams of bone covering the metaphyseal side of the physes, and lack of ingrowth of chondroclasts and capillaries
• the dysmorphology of epiphyseal plates coupled with the variable penetrance of the bone abnormality is reminiscent of human hypochondroplasia

nervous system
• significant reductions in numbers of vestibular sensory cells
• significant reductions in numbers of vestibular hair cell stereocilia
• brains of homozygous null mice display enlarged ventricles
• homozygotes display a 50% decrease in Purkinje cells at the cerebellar molecular-granular cell layer boundary
• numerous large Purkinje-like cells are distributed throughtout the otherwise normal-appearing granular cell layer of the cerebellum
• vestibular ganglia have decreased neuron cell bodies

vision/eye
• 50% of homozygotes spontaneously develop periocular neutrophilic/lymphocytic infiltrates

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteochondrodysplasia DOID:2256 J:30611


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
03/03/2020
MGI 6.15
The Jackson Laboratory