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Phenotypes Associated with This Genotype
Genotype
MGI:3609192
Allelic
Composition
Del(1)1Brk/Del(1)1Brk
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(1)1Brk mutation (1 available); any Del(1)1Brk mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• Background Sensitivity: most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background

nervous system
N
• only rarely observe hydroencephaly on the mixed 129S6/SvEvTac background

hematopoietic system
• anemia tends to improve after 4 weeks of age
• erythroid hyperplasia in the marrow
• hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)
• erythrocytes are hypochromic
• erythrocytes are microcytic
• reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia
• splenomegaly tends to improve with age
• red pulp is expanded and occupied by sheets of erythroid precursors
• expanded red pulp effaces the normal white pulp architecture

homeostasis/metabolism
• the erythrocyte zinc protoporphyrin IX to heme (Znpp/H) ratio is increased nearly 4-fold at 4 weeks of age, suggesting an iron metabolism defect
• total iron uptake in reticulocytes is decreased about 4-fold and reticulocytes incorporate much less iron into heme
• an average of 31% of iron is released from cells compared to an average of 3% in controls, indicating an endosomal iron processing defect in which there is inefficient transfer of endosomal iron to the cell
• bone marrow reticuloendothelial iron is present
• at 4 weeks of age serum iron, total iron binding concentration, and transferrin saturations are elevated, however these levels normalize over time
• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

immune system
• splenomegaly tends to improve with age
• red pulp is expanded and occupied by sheets of erythroid precursors
• expanded red pulp effaces the normal white pulp architecture

reproductive system
• sperm heads are present and appear normal, however there are no visible flagella
• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
• defect late in spermiogenesis
(J:100202)
(J:130396)

endocrine/exocrine glands

liver/biliary system
• slight hepatomegaly, not due to extramedullary hematopoiesis
• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

cardiovascular system
• slight cardiomegaly, particularly at earlier ages, which tends to improve with age

cellular
• sperm heads are present and appear normal, however there are no visible flagella
• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
• beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
• however sinus and tracheal epithelial cells have cilia with a normal ultrastructure

respiratory system
• beat frequency of tracheal epithelial cilia is about 25% lower than that of wild-type cilia, indicating impaired ciliary motility
• however sinus and tracheal epithelial cells have cilia with a normal ultrastructure
• accumulation of mucus in the sinuses, although no evidence of inflammation
• respiratory abnormalities

growth/size/body
N
• mice do not exhibit situs inversus
• slight cardiomegaly, particularly at earlier ages, which tends to improve with age
• slight hepatomegaly, not due to extramedullary hematopoiesis
• splenomegaly tends to improve with age

hearing/vestibular/ear
N
• mice do not exhibit otitis media

vision/eye
N
• mice do not exhibit retinitis pigmentosa

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
primary ciliary dyskinesia DOID:9562 OMIM:PS244400
J:130396


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory