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Phenotypes Associated with This Genotype
Genotype
MGI:3615049
Allelic
Composition
Spta1ihj/Spta1ihj
Genetic
Background
involves: HRS/J * LAH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spta1ihj mutation (1 available); any Spta1 mutation (147 available)
phenotype observed in females
phenotype observed in males
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/body
• homozygous mutant mice are much smaller than their littermates
• some homozygous mice exhibit enlargement of the liver
• 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

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

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

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
DO ID OMIM ID(s) Ref(s)
hereditary spherocytosis type 3 DOID:0110918 OMIM:270970
J:157766


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
03/12/2024
MGI 6.23
The Jackson Laboratory