Analysis Tools
pigmentation
head blaze
(
J:78323
)
|
• 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
|
|
• areas of hypopigmentation on the midforehead
|
craniofacial
|
• areas of hypopigmentation on the midforehead
|
behavior/neurological
|
• genetic background effects were noted, but not specified
(J:78323)
|
endocrine/exocrine glands
small thymus
(
J:78323
)
|
• apoptotic cells were noted in the cortical level
|
 |
• despite the reduced size of the tubules, spermatogenesis appeared normal
|
small testis
(
J:78323
)
|
|
• testes were reduced by 40% compared to controls
|
growth/size/body
|
• areas of hypopigmentation on the midforehead
|
|
• 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
small thymus
(
J:78323
)
|
• 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
small thymus
(
J:78323
)
|
• 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
|
blepharitis
(
J:48521
)
|
• 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
|
small testis
(
J:78323
)
|
|
• 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
blepharitis
(
J:48521
)
|
• variable degrees of inflammation; almost all homozygotes develop swollen eyelids
|
|
• variable degrees of neutrophilic infiltration
|
|
• histological analysis revealed a number of conjunctival abnormalities
|
integument
head blaze
(
J:78323
)
|
• 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
|
|
• areas of hypopigmentation on the midforehead
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Waardenburg syndrome | DOID:9258 |
OMIM:PS193500 |
J:80529 | |
