mortality/aging
• 100% neonatal lethality, with no mice surviving after birth
|
growth/size/body
cleft palate
(
J:240594
)
• 67% of embryos have cleft palate
|
narrow head
(
J:240594
)
• dolichocephaly in some embryos
|
cardiovascular system
• narrow umbilical vein in 50% of embryos
|
• narrow ductus venosus in 50% of mice
|
• embryos have abnormal heart position involving a 30-40 degree twist along the coronal axis at E13.5 and E14.5
|
• 67% of embryos have a ventricular septal defect
|
• 31% of embryos exhibit intracranial hemorrhages
|
craniofacial
micrognathia
(
J:240594
)
• in some embryos
|
cleft palate
(
J:240594
)
• 67% of embryos have cleft palate
|
narrow head
(
J:240594
)
• dolichocephaly in some embryos
|
digestive/alimentary system
cleft palate
(
J:240594
)
• 67% of embryos have cleft palate
|
embryo
• narrow umbilical vein in 50% of embryos
|
• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds
• neural tube defects range from spina bifida to craniorachischisis with some spina bifida
• occasional overgrowth of neural tissue is seen in embryos with neural tube defects
|
spina bifida
(
J:240594
)
• seen in some embryos
|
• seen in some embryos
|
• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects
|
endocrine/exocrine glands
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5
|
nervous system
• 31% of embryos exhibit intracranial hemorrhages
|
• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds
• neural tube defects range from spina bifida to craniorachischisis with some spina bifida
• occasional overgrowth of neural tissue is seen in embryos with neural tube defects
|
spina bifida
(
J:240594
)
• seen in some embryos
|
• seen in some embryos
|
• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects
|
• a high percentage of embryos exhibit abnormal trigeminal nerve
|
• a high percentage of embryos exhibit abnormal spinal ganglia
|
renal/urinary system
• a high percentage of embryos exhibit urethral abnormalities
|
reproductive system
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5
|
skeleton
micrognathia
(
J:240594
)
• in some embryos
|
vision/eye
• seen in some embryos
|
• retinal abnormalities
|
anophthalmia
(
J:240594
)
• some mice show uni/bi-lateral eye agenesis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
chromosome 1q41-q42 deletion syndrome | DOID:0060412 |
OMIM:612530 |
J:240594 |