Mouse Genome Informatics
cx
    Ehhadhtm1Jkr/Ehhadhtm1Jkr
Hsd17b4tm1Baes/Hsd17b4tm1Baes

involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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 (J:104835)

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

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