Mouse Genome Informatics
hm
    Snai2tm2Grid/Snai2tm2Grid
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
pigmentation
• white forehead blaze occasionally noted
• occasional white spotting of coat (J:78323)
• mutants exhibit areas of hypopigmentation on the midforehead and extremity depigmentation (J:80529)
• various degrees of dermal depigmentation; tails and feet are often depigmented

behavior/neurological
• genetic background effects were noted, but not specified (J:78323)
• genetic background effects were noted, but not specified (J:78323)

endocrine/exocrine glands
• despite the reduced size of the tubules, spermatogenesis appeared normal (J:78323)
• testes were reduced by 40% compared to controls (J:78323)

growth/size
• at time of weaning animals weighed 70% that of wild-type and heterozygous littermates
• animals showed moderate growth retardation during the first 3 weeks of life
• after weaning, growth rate matches that of wild-type but animals never attain wild-type body size

hematopoietic system
• a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells
• apoptotic cells were noted in the cortical level

immune system
• a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells
• apoptotic cells were noted in the cortical level
• variable degrees of inflammation; almost all homozygotes develop swollen eyelids
• variable degrees of neutrophilic infiltration

reproductive system
• despite the reduced size of the tubules, spermatogenesis appeared normal (J:78323)
• testes were reduced by 40% compared to controls (J:78323)
• small litters from homozygous males were produced; on average the litter size was 3-6 pups vs. 10-12 in controls
• incomplete penetrance; 15% of males fail to induce pregnancy despite producing plugs in females (J:78323)
• small litters from homozygous males were produced; on average the litter size was 3-6 pups vs. 10-12 in controls (J:78323)

vision/eye
• variable degrees of inflammation; almost all homozygotes develop swollen eyelids
• histological analysis revealed a number of conjunctival abnormalities
• variable degrees of neutrophilic infiltration

integument
• white forehead blaze occasionally noted
• occasional white spotting of coat (J:78323)
• mutants exhibit areas of hypopigmentation on the midforehead and extremity depigmentation (J:80529)
• various degrees of dermal depigmentation; tails and feet are often depigmented

Mouse Models of Human Disease
OMIM IDRef(s)
Waardenburg Syndrome, Type 2D; WS2D 608890 J:80529