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Phenotypes Associated with This Genotype
Genotype
MGI:2652604
Allelic
Composition
Snai2tm2Grid/Snai2tm2Grid
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snai2tm2Grid mutation (1 available); any Snai2 mutation (11 available)
phenotype observed in females
phenotype observed in males
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
• apoptotic cells were noted in the cortical level
• despite the reduced size of the tubules, spermatogenesis appeared normal
• testes were reduced by 40% compared to controls

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

immune system
• apoptotic cells were noted in the cortical level
• a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells
• 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
• testes were reduced by 40% compared to controls
• 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
• small litters from homozygous males were produced; on average the litter size was 3-6 pups vs. 10-12 in controls

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

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 ID Ref(s)
Waardenburg Syndrome, Type 2D; WS2D 608890 J:80529


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory