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Phenotypes Associated with This Genotype
Genotype
MGI:3606114
Allelic
Composition
Ehhadhtm1Jkr/Ehhadhtm1Jkr
Hsd17b4tm1Baes/Hsd17b4tm1Baes
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehhadhtm1Jkr mutation (0 available); any Ehhadh mutation (16 available)
Hsd17b4tm1Baes mutation (0 available); any Hsd17b4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Growth retardation and hypotonia in Ehhadhtm1Jkr/Ehhadhtm1Jkr Hsd17b4tm1Baes/Hsd17b4tm1Baes mice

mortality/aging
• about one third of homozygotes die within 24 hours of birth
• most died before weaning and the few surviving as much as 5 weeks were still suckling and not eating solid food
• some died in the first 3 days after birth with an inability to suckle

growth/size/body
• very striking growth retardation (J:89945)
• homozygotes are between 66 and 90% of normal weight (J:104835)

behavior/neurological
• some show difficulty suckling and usually die within 3 days of birth
• reduced activity in mice that die the first day

homeostasis/metabolism
• complete blockade of beta oxidation in liver peroxisomes
• about a 20% residual capacity to oxidize long chain fatty acids
• 7 fold increase in C26/C22 ratio in serum (J:89945)
• 3-4 fold increase in accumulation of long chain fatty acids in brain phospholipids (J:104835)
• altered bile salt concentration
• 3.5 fold decrease in docosahexaenoic acid in serum

liver/biliary system
• microvesicular fatty changes in the liver appear between 3 and 5 weeks of age

cellular
• reduction in numbers of peroxisomes

nervous system
N
• no abnormalities are observed in cortical neuronal migration

muscle
• mice that die the first day suffer from severe hypotonia

Mouse Models of Human Disease
OMIM ID Ref(s)
D-Bifunctional Protein Deficiency 261515 J:89945 , J:99925


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory