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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Wdr45btm1c(EUCOMM)Hmgu
targeted mutation 1c, Helmholtz Zentrum Muenchen GmbH
MGI:6479738
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Atg7tm1Tchi/Atg7tm1Tchi
Tg(Nes-cre)1Kln/0
Wdr45btm1c(EUCOMM)Hmgu/Wdr45btm1c(EUCOMM)Hmgu
involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL MGI:6480015
cn2
Tg(Nes-cre)1Kln/0
Wdr45btm1c(EUCOMM)Hmgu/Wdr45btm1c(EUCOMM)Hmgu
involves: C57BL/6 * SJL MGI:6480012


Genotype
MGI:6480015
cn1
Allelic
Composition
Atg7tm1Tchi/Atg7tm1Tchi
Tg(Nes-cre)1Kln/0
Wdr45btm1c(EUCOMM)Hmgu/Wdr45btm1c(EUCOMM)Hmgu
Genetic
Background
involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg7tm1Tchi mutation (3 available); any Atg7 mutation (51 available)
Tg(Nes-cre)1Kln mutation (4 available)
Wdr45btm1c(EUCOMM)Hmgu mutation (0 available); any Wdr45b mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• motor deficits at age 4 weeks

nervous system
• many dead cells at age 4 weeks
• many dead cells at age 4 weeks
• severe cerebellar degeneration at age 4 weeks
• many dead Purkinje and granule cells at age 4 weeks
• dense fibrils and severely damaged myelinated nerve fibers in cerebellum at age 4 weeks

growth/size/body
• severe growth retardation of the few mice that are born

mortality/aging
• the few mice that are born die within 4 weeks

cellular
• accumulation of small fragmented and swollen rod-shaped Golgi membranes in cerebellar Purkinje cells at age 4 weeks
• highly enriched smooth ER membranes in cerebellar Purkinje cells and myelinated nerve fibers at age 4 weeks




Genotype
MGI:6480012
cn2
Allelic
Composition
Tg(Nes-cre)1Kln/0
Wdr45btm1c(EUCOMM)Hmgu/Wdr45btm1c(EUCOMM)Hmgu
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Wdr45btm1c(EUCOMM)Hmgu mutation (0 available); any Wdr45b mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• neuronal damage in cerebral cortex
• severe reduction in cell number in first fissure of cerebellum at age 10 weeks
• increased Gfap protein expression in cerebral cortex and Iba1 protein expression in cerebellum
• iron depositions in cerebellar Purkinje and granule cells
• severe reduction in cell number in first fissure of cerebellum at age 10 weeks
• severe reduction in cell number in first fissure of cerebellum at age 10 weeks
• severe reduction in cell number in first fissure of cerebellum at age 10 weeks
• presence of dead cells, collapsed myelinated nerve fibers and lamellar bodies
• dense fibrils in cerebellar myelinated nerve fibers

cellular
N
• normal canonical autophagy in brain
• normal endoplasmic reticulum morphology in cerebellar Purkinje cells at age 10 weeks
• accumulation of small fragmented and swollen rod-shaped Golgi membranes in cerebellar Purkinje cells at age 10 weeks
• swollen mitochondria in cerebellar Purkinje cells, myelinated nerve fibers, glomeruli and granule cells

behavior/neurological
• abnormal limb-clasping reflexes at age 10 weeks
• lower latency to fall in rotarod test at age 10, 15 and 20 weeks
• abnormal footprint assay patterns at age 10 weeks

homeostasis/metabolism
• iron depositions in cerebellar Purkinje and granule cells

growth/size/body
• from age 8 weeks





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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory