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Phenotypes Associated with This Genotype
Genotype
MGI:6721006
Allelic
Composition
Wdr45em1Wrst/Y
Genetic
Background
involves: C57BL/6N * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wdr45em1Wrst mutation (1 available); any Wdr45 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice exhibit normal glucose clearance (J:307284)
N
(J:307284)
• at 14 months of age
• in male, but not female, mice
• slight with increased transferrin saturation
• however, iron levels are normal in the brain and erythropoiesis organ
• decreased alpha-amylase activity in male, but not female, mice
• in male, but not female, mice
• in male, but not female, mice
• in male, but not female, mice

nervous system
• impaired in the cerebellar cortex
• in the medulla oblongata
• reduced dopamine positive neuroaxonal fibres in the substantia nigra
• progressive with eosinophil spheroids and swollen structures in the basal ganglia, thalamus, cerebral cortex, medulla oblongata, spinal cord, and deep cerebellar nuclei

vision/eye
• in some mice

behavior/neurological
• at 20 months
• increased falls on a balance beam and longer time to traverse a beam ladder with increased hindpaw slips
• however, forepaw slips rate is normal
• increased distance traveled
• impaired social recognition memory in male, but not female, mice

hematopoietic system
• in male, but not female, mice
• in male, but not female, mice
• MP:0002642

growth/size/body

hearing/vestibular/ear
• progressive starting at 17 months in a click-box test

cellular
• reduced complex I activity when normalized to citrate synthase activity in the brain
• however, mice exhibit normal citrate synthase activity and normalized respiratory chain complex activity in the heart

immune system

pigmentation
• in the retina
• however, no lipofuscin accumulation in the brain

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurodegeneration with brain iron accumulation 5 DOID:0110739 OMIM:300894
J:307284


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
04/16/2024
MGI 6.23
The Jackson Laboratory