About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory