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Phenotypes Associated with This Genotype
Genotype
MGI:3606112
Allelic
Composition
Hsd17b4tm1Baes/Hsd17b4tm1Baes
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• no germ cells present at 6-20 weeks old
• spermatids still present at 5 weeks of age
• become elongated at 7 weeks of age

mortality/aging
• mice die before 6 months
• about 30% of most severely affected mice die between 2 and 12 days of age

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
DO ID OMIM ID(s) Ref(s)
D-bifunctional protein deficiency DOID:0090031 OMIM:261515
J:62314 , J:99925


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)
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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory