All Phenotypes Wdr45<em1Wrst> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Wdr45^em1Wrst/Wdr45^em1Wrst	involves: C57BL/6N * FVB	MGI:6721005
ht2	Wdr45^em1Wrst/Wdr45⁺	involves: C57BL/6N * FVB	MGI:6721007
ot3	Wdr45^em1Wrst/Y	involves: C57BL/6N * FVB	MGI:6721006

Allelic Composition	Wdr45^em1Wrst/Wdr45^em1Wrst
Genetic Background	involves: C57BL/6N * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wdr45^em1Wrst mutation (1 available); any Wdr45 mutation (20 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:307284 )

N	• female mice exhibit normal serum protein (total protein, albumin, and total iron binding capacity) levels

increased circulating glucose level ( J:307284 )

• at 14 months of age

decreased circulating lactate level ( J:307284 )

increased circulating iron level ( J:307284 )

• slight with increased transferrin saturation

• however, iron levels are normal in the brain and erythropoiesis organ

increased circulating aspartate transaminase level ( J:307284 )

• at 14 months of age

increased circulating lactate dehydrogenase level ( J:307284 )

• at 14 months of age

impaired glucose tolerance ( J:307284 )

• mild delay in glucose clearance in female, but not male mice

increased alkaline phosphatase activity ( J:307284 )

• at 14 months of age

nervous system

abnormal cerebellar Purkinje cell layer ( J:307284 )

• impaired in the cerebellar cortex

astrocytosis ( J:307284 )

• in the medulla oblongata

decreased dopaminergic neuron number ( J:307284 )

• reduced dopamine positive neuroaxonal fibres in the substantia nigra

neurodegeneration ( J:307284 )

• progressive with eosinophil spheroids and swollen structures in the basal ganglia, thalamus, cerebral cortex, medulla oblongata, spinal cord, and deep cerebellar nuclei

vision/eye

decreased cornea thickness ( J:307284 )

increased eye anterior chamber depth ( J:307284 )

decreased total retina thickness ( J:307284 )

• in female, but not male, mice

retina degeneration ( J:307284 )

• in some mice

behavior/neurological

limb grasping ( J:307284 )

tremors ( J:307284 )

• at 20 months

impaired coordination ( J:307284 )

• 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 locomotor activity ( J:307284 )

• increased distance traveled

growth/size/body

increased body weight ( J:307284 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:307284 )

impaired hearing ( J:307284 )

• progressive starting at 17 months in a click-box test

hematopoietic system

hematopoietic system phenotype ( J:307284 )

• female mice exhibit normal leukocyte and erythrocyte counts along with normal hemoglobin levels and hematocrit levels

anisocytosis ( J:307284 )

• MP:0002642

pigmentation

lipofuscinosis ( J:307284 )

• in the retina

• however, no lipofuscin accumulation in the brain

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:307284 )

• 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

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

Allelic Composition	Wdr45^em1Wrst/Wdr45⁺
Genetic Background	involves: C57BL/6N * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wdr45^em1Wrst mutation (1 available); any Wdr45 mutation (20 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

impaired coordination ( J:307284 )

• increased falls on a balance beam

increased locomotor activity ( J:307284 )

• increased distance traveled

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:307284 )

• reduced hearing sensitivity

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:307284 , J:307284 )

N	(J:307284)
	• mice exhibit normal glucose clearance (J:307284)

increased circulating glucose level ( J:307284 )

• at 14 months of age

decreased circulating lactate level ( J:307284 )

decreased circulating triglyceride level ( J:307284 )

• in male, but not female, mice

increased circulating iron level ( J:307284 )

• slight with increased transferrin saturation

• however, iron levels are normal in the brain and erythropoiesis organ

decreased circulating amylase level ( J:307284 )

• decreased alpha-amylase activity in male, but not female, mice

increased circulating aspartate transaminase level ( J:307284 )

• at 14 months of age

increased circulating lactate dehydrogenase level ( J:307284 )

• at 14 months of age

decreased circulating serum albumin level ( J:307284 )

• in male, but not female, mice

decreased circulating total protein level ( J:307284 )

• in male, but not female, mice

decreased circulating unsaturated transferrin level ( J:307284 )

• in male, but not female, mice

increased alkaline phosphatase activity ( J:307284 )

• at 14 months of age

nervous system

abnormal cerebellar Purkinje cell layer ( J:307284 )

• impaired in the cerebellar cortex

astrocytosis ( J:307284 )

• in the medulla oblongata

decreased dopaminergic neuron number ( J:307284 )

• reduced dopamine positive neuroaxonal fibres in the substantia nigra

neurodegeneration ( J:307284 )

• progressive with eosinophil spheroids and swollen structures in the basal ganglia, thalamus, cerebral cortex, medulla oblongata, spinal cord, and deep cerebellar nuclei

vision/eye

decreased cornea thickness ( J:307284 )

increased eye anterior chamber depth ( J:307284 )

retina degeneration ( J:307284 )

• in some mice

behavior/neurological

limb grasping ( J:307284 )

tremors ( J:307284 )

• at 20 months

impaired coordination ( J:307284 )

• 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 locomotor activity ( J:307284 )

• increased distance traveled

abnormal social recognition ( J:307284 )

• impaired social recognition memory in male, but not female, mice

hematopoietic system

increased erythrocyte cell number ( J:307284 )

• in male, but not female, mice

increased hemoglobin content ( J:307284 )

• in male, but not female, mice

anisocytosis ( J:307284 )

• MP:0002642

increased leukocyte cell number ( J:307284 )

growth/size/body

increased body weight ( J:307284 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:307284 )

impaired hearing ( J:307284 )

• progressive starting at 17 months in a click-box test

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:307284 )

• 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

increased leukocyte cell number ( J:307284 )

pigmentation

lipofuscinosis ( J:307284 )

• 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

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