Mouse Genome Informatics
ht
    NipblGt(RRS564)Byg/Nipbl+
involves: 129P2/OlaHsd * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Bone and heart development abnormalities in NipblGt(RRS564)Byg/Nipbl+ mice

mortality/aging
• although present in normal Mendelian ratios at E17.5 and E18.5, 75% to 80% of mice die prior to 4 weeks of age

growth/size
• body weight is decreased 40% to 50% compared to wild-type mice
• by 9 weeks, mice weight 65% to 70% of wild-type
• mice exhibit a sunken mid-face unlike wild-type mice
• during the first weeks of life, mice fail to thrive and undergo several days of wasting followed by death unlike wild-type mice
• 18% to 19% smaller than wild-type at E17.5 to E18.5
• at E17.5 to E18.5, mice weight is 18% to 19% less than in wild-type mice

cardiovascular system
N
• no abnormalities detected in the atrioventricular valves or septum, outflow tract, or pulmonary vasculature (J:154117)
• many mice exhibit abnormal heart morphology compared with wild-type mice
• however, mice that survive the perinatal period exhibit normal heart morphology
• in some mice
• many mice exhibit disorganized compact layer, especially near the apex, unlike in wild-type mice
• many mice exhibit abnormal ventricular and interventricular myocardium, including abnormal lacunar structures, compared with wild-type mice
• in 50% of mice as early as E15.5
• in 58% of mice between E15.5 and E17.5

skeleton
• skull bone thickness is reduced compared to in wild-type mice
• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
• the sphenoid bone is reduced compared to in wild-type mice
• the ethmoid bone is reduced compared to in wild-type mice

vision/eye
• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice
• 22% of mice exhibit opthalmological defects unlike wild-type mice
• as early as 3 weeks of age, 14% of mice exhibit ocular opacification unlike wild-type mice
• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice

behavior/neurological
• 30% of mice treated with a normal dose of the anesthetic avertin adopt an opisthotonic position unlike similarly treated wild-type mice
• in 15% of mice compared with 2% of wild-type mice
• in 20% of mice

nervous system
• in some mice
• lobe IX exhibits a specific reduction compared to in wild-type mice

hearing/vestibular/ear
• nearly all mice exhibit abnormal relative intensities of the components of the brainstem auditory evoked potential compared with wild-type mice
• peak III is reduced compared to in wild-type mice

cellular
• mice embryonic fibroblasts exhibit less spontaneous differentiation into adipocytes compared with wild-type cells
• however, induced adipogenesis of mouse embryonic fibroblasts is normal

immune system
• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice
• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice

limbs/digits/tail
• at E17.5

craniofacial
• skull bone thickness is reduced compared to in wild-type mice
• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
• the sphenoid bone is reduced compared to in wild-type mice
• the ethmoid bone is reduced compared to in wild-type mice
• mice exhibit a sunken mid-face unlike wild-type mice

adipose tissue

Mouse Models of Human Disease
OMIM IDRef(s)
Cornelia De Lange Syndrome 1; CDLS1 122470 J:154117