Mouse Genome Informatics
hm
    Hsd17b4tm1Baes/Hsd17b4tm1Baes
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 30% of most severely affected mice die between 2 and 12 days of age
• mice die before 6 months

reproductive system
• no germ cells present at 6-20 weeks old
• spermatogenesis severely compromised at 5 weeks of age
• some tubules continue to carry sperm at 5 weeks
• spermatids still present at 5 weeks of age
• become elongated at 7 weeks of age
• normal at 10 days an 3 weeks of age
• some lipid drops present
• lipid present on periphery of tubules at 5 weeks of age
• empty or filled with fibrous debris at 7 weeks
• multilayered structure of tubules lost
• only a few cell layers remaining by 12 and 16 weeks
• become severely atrophied at 6- 20 weeks of age
• lipid filled
• descend normally
• small size
• no sperm present
• 6-20 week old males mate but fail to sire offspring
• severely reduced fertility in males but not in females

nervous system
N
• no abnormalities are observed in cortical neuronal migration
• severe with earliest onset between 1 and 2 months and increasing severity with age
• more prominent in gray matter in all brain regions except for the cerebellum
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts
• at 4 months
• loss of axonal integrity with swelling prior to demyelination

behavior/neurological
• anxious phenotype beyond 12 weeks
• beyond 12 weeks
• severe beyond 12 weeks (J:201698)
• on a rotarod from 4 weeks, worsening with age
• beyond 12 weeks of age, mice exhibit frequent falls
• mice become lethargic as their condition deteriorates between 4 and 6 months with hind paws often retracted to the body
• unsteady gait beyond 12 weeks

homeostasis/metabolism
• considerable decrease in oxidation of long chain fatty acids as well as branched chain fatty acids
• levels of C26 fatty acids increased 3-6X in livers and brains
• increased levels of branched fatty acids
• altered bile salt concentration
• accumulation of long chain fatty acids in the cortex

digestive/alimentary system
• more undigested material in feces of suckling mice than for littermate controls

growth/size/body
• body weight 50% lower than littermate controls at weaning
• noticeable from age 2 days onward
• growth improves after weaning but adults still are 30% lower in weight than controls

vision/eye

endocrine/exocrine glands
• normal at 10 days an 3 weeks of age
• some lipid drops present
• lipid present on periphery of tubules at 5 weeks of age
• empty or filled with fibrous debris at 7 weeks
• multilayered structure of tubules lost
• only a few cell layers remaining by 12 and 16 weeks
• become severely atrophied at 6- 20 weeks of age
• lipid filled
• descend normally
• small size

hematopoietic system
• severe with earliest onset between 1 and 2 months and increasing severity with age
• more prominent in gray matter in all brain regions except for the cerebellum
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts

immune system
• severe with earliest onset between 1 and 2 months and increasing severity with age
• more prominent in gray matter in all brain regions except for the cerebellum
• in the anterior and posterior horns of the spinal cord but not in the white matter tracts

Mouse Models of Human Disease
OMIM IDRef(s)
D-Bifunctional Protein Deficiency 261515 J:62314 , J:99925