Phenotypes associated with this allele

• Allele Symbol: Hsd17b4^tm2Baes
• Allele Name: targeted mutation 2, Myriam Baes
• Allele ID: MGI:5523923
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hsd17b4^tm2Baes/Hsd17b4^tm2Baes	involves: 129 * C57BL/6	MGI:5523948
cn2	Hsd17b4^tm2Baes/Hsd17b4^tm2Baes Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5523950
cn3	Hsd17b4^tm2Baes/Hsd17b4^tm2Baes Cnp^tm1(cre)Kan/Cnp^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5523949

Genotype
MGI:5523948

hm1

• Allelic Composition: Hsd17b4^tm2Baes/Hsd17b4^tm2Baes
• Genetic Background: involves: 129 * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:201698 )

• mice are healthy and fertile

Genotype
MGI:5523950

cn2

• Allelic Composition: Hsd17b4^tm2Baes/Hsd17b4^tm2Baes; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

premature death ( J:201698 )

• mice are euthanized beyond 12 months due to severe coordination defects

• however, most mice survive to at least 1 year of age

reproductive system

reduced female fertility ( J:201698 )

♀ • fewer and smaller litters than control mice

decreased litter size ( J:201698 )

♀ • from female mice

male infertility ( J:201698 )

♂

nervous system

microgliosis ( J:201698 )

• minor at 6 months

cerebellum atrophy ( J:201698 )

• cerebella atrophy

neuron degeneration ( J:201698 )

• neuronal death after 6 months

Purkinje cell degeneration ( J:201698 )

• at 12 months of age

axon degeneration ( J:201698 )

• loss of axonal integrity with swelling prior to demyelination

demyelination ( J:201698 )

• myelin loss between 4 and 6 months in cerebellar branches, worsen at 10 to 12 months

• however, myelination in the central white matter is normal

behavior/neurological

increased anxiety-related response ( J:201698 )

• anxious phenotype beyond 12 weeks

tremors ( J:201698 )

• beyond 12 weeks

ataxia ( J:201698 )

• beyond 12 weeks

• severe at 12 months

impaired coordination ( J:201698 )

• on a rotarod from 4 weeks, worsening with age

• from 12 weeks of age, mice exhibit frequent falls

abnormal gait ( J:201698 )

• unsteady gait beyond 12 weeks, worsening by 6 months

• mice exhibit poor fore limb hind limb coordination with ipsilateral paw placement

short stride length ( J:201698 )

• with increased stance at 6 months

homeostasis/metabolism

increased fatty acids level ( J:201698 )

• accumulation of long chain fatty acids in the cerebellum and cortex

growth/size/body

decreased body weight ( J:201698 )

• at P7, P21 and beyond

postnatal growth retardation ( J:201698 )

• pre- and post-weaning

hematopoietic system

microgliosis ( J:201698 )

• minor at 6 months

immune system

microgliosis ( J:201698 )

• minor at 6 months

Genotype
MGI:5523949

cn3

• Allelic Composition: Hsd17b4^tm2Baes/Hsd17b4^tm2Baes; Cnp^tm1(cre)Kan/Cnp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

homeostasis/metabolism

increased fatty acids level ( J:201698 )

• accumulation of long chain fatty acids in the cerebellum

reproductive system

reproductive system phenotype ( J:201698 )

N • mice exhibit normal reproduction

behavior/neurological

behavior/neurological phenotype ( J:201698 )

N • mice exhibit normal coordination on a rotarod test at 6 and 12 months

growth/size/body

growth/size/body region phenotype ( J:201698 )

N • mice exhibit normal growth

nervous system

nervous system phenotype ( J:201698 )

N • mice exhibit normal myelination and cerebellum morphology