mortality/aging
• normal numbers of pups are born but most die within 24 hours
|
craniofacial
• enlarged front fontanelle is present in mutants
|
• calvarium of adult homozygotes has wider frontal bones than wild-type littermates resulting in a wider distance between the eyes
|
• nasal bone of adults is shorter than in wild-type
|
growth/size/body
• nasal bone of adults is shorter than in wild-type
|
• at birth, mutants are less than 2/3 the weight of normal littermates
|
hematopoietic system
• at P1, many thymocytes are dead or dying
|
small thymus
(
J:106540
)
• thymuses of P1 mutants are much smaller than those of controls
|
immune system
• at P1, many thymocytes are dead or dying
|
small thymus
(
J:106540
)
• thymuses of P1 mutants are much smaller than those of controls
|
skeleton
• enlarged front fontanelle is present in mutants
|
• calvarium of adult homozygotes has wider frontal bones than wild-type littermates resulting in a wider distance between the eyes
|
• nasal bone of adults is shorter than in wild-type
|
vision/eye
• mutants display a wider distance between the eyes
|
cellular
• at P1, many thymocytes are dead or dying
|
endocrine/exocrine glands
• at P1, many thymocytes are dead or dying
|
small thymus
(
J:106540
)
• thymuses of P1 mutants are much smaller than those of controls
|
respiratory system
• nasal bone of adults is shorter than in wild-type
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DOID:0090008 |
OMIM:242860 |
J:106540 |