Mouse Genome Informatics
hm
    Spta1ihj/Spta1ihj
involves: HRS/J * LAH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most affected mice die during the first week of life; of those surviving the first week, many die after weaning

liver/biliary system
• some homozygous mice exhibit enlargement of the liver
• by the second postnatal day, homozygous mutants can be identified by their pale orange color; the orange pallor of their skin, nails and mucosa persists throughout life

growth/size
• homozygous mutant mice are much smaller than their littermates

reproductive system
• in the rare instance that a homozygous female becomes pregnant, she is likely to die giving birth (J:105409)
• in the rare instance that a homozygous female becomes pregnant, most of the pups are stillborn or die soon after birth (J:105409)

behavior/neurological
• in the rare instance that a homozygous female becomes pregnant, if the mother and any pups survive, the dam will abandon her offspring (J:105409)

digestive/alimentary system
• feces of mutant mice are orange colored and soft

hematopoietic system
• in homozygous mice, the normal nodular splenic architecture is absent
• the spleens of homozygous mice, while of normal size for about 3 days after birth, become hypertrophied and in adults are threefold heavier than those of unaffected mice

immune system
• in homozygous mice, the normal nodular splenic architecture is absent
• the spleens of homozygous mice, while of normal size for about 3 days after birth, become hypertrophied and in adults are threefold heavier than those of unaffected mice

homeostasis/metabolism
• the circulating bilirubin level of affected mice is elevated, indicating red cell lysis

integument
• development of the hair coat occurs 4-5 days later in homozygotes than in their littermates
• by the second postnatal day, homozygous mutants can be identified by their pale orange color; the orange pallor of their skin, nails and mucosa persists throughout life

Mouse Models of Human Disease
OMIM IDRef(s)
Spherocytosis, Type 3; SPH3 270970 J:157766