Phenotypes associated with this allele
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| 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)
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mortality/aging
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• Background Sensitivity: of the mutants that are born, most die prior to P7, with a few surviving past weaning, on the C57BL/6J background
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• significant prenatal lethality on the C57BL/6J background, as only observe 7.3% of homozygotes at birth instead of the expected 25%
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growth/size/body
hematopoietic system
nervous system
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• Background Sensitivity: evident on the C57BL/6J background but not on a mixed 129S6/SvEvTac background
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reproductive system
integument
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• particularly on dorsal surfaces
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| 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)
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growth/size/body
hematopoietic system
reproductive system
integument
Allelic
Composition |
Del(1)1Brk/Del(1)1Brk
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Genetic
Background |
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J |
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| 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)
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hematopoietic system
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• the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild-type mice
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• blood of 8 week old mice homozygous for the deletion has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice
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• red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild-type mice
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• the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild-type mice
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• 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild-type mice
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• red blood cells of homozygous deletants vary in shape and size
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• the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild-type mice
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• reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild-type mice
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• in blood of 8 week old homozygous deletant mice, both the absolute number and the proportion of reticulocytes are significantly elevated over those in blood of mice with at least one wild-type allele
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homeostasis/metabolism
liver/biliary system
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• the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice
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Allelic
Composition |
Del(1)1Brk/Del(1)1Brk
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Genetic
Background |
involves: 129S6/SvEvTac * C57BL/6J * CBA/J |
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| 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)
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mortality/aging
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N |
• Background Sensitivity: most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background
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nervous system
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N |
• only rarely observe hydroencephaly on the mixed 129S6/SvEvTac background
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hematopoietic system
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• anemia tends to improve after 4 weeks of age
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• erythroid hyperplasia in the marrow
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• hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)
• erythrocytes are hypochromic
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• erythrocytes are microcytic
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• reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia
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• splenomegaly tends to improve with age
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• red pulp is expanded and occupied by sheets of erythroid precursors
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• expanded red pulp effaces the normal white pulp architecture
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homeostasis/metabolism
immune system
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• splenomegaly tends to improve with age
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• red pulp is expanded and occupied by sheets of erythroid precursors
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• expanded red pulp effaces the normal white pulp architecture
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reproductive system
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• sperm heads are present and appear normal, however there are no visible flagella
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• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
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• defect late in spermiogenesis
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(J:100202)
(J:130396)
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endocrine/exocrine glands
liver/biliary system
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• slight hepatomegaly, not due to extramedullary hematopoiesis
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• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system
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cardiovascular system
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• slight cardiomegaly, particularly at earlier ages, which tends to improve with age
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cellular
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• sperm heads are present and appear normal, however there are no visible flagella
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• absence of mature spermatozoa in the seminiferous tubules and in the epididymis
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• 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
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respiratory system
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• 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
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• accumulation of mucus in the sinuses, although no evidence of inflammation
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• respiratory abnormalities
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growth/size/body
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N |
• mice do not exhibit situs inversus
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• slight cardiomegaly, particularly at earlier ages, which tends to improve with age
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• slight hepatomegaly, not due to extramedullary hematopoiesis
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• splenomegaly tends to improve with age
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hearing/vestibular/ear
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N |
• mice do not exhibit otitis media
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vision/eye
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N |
• mice do not exhibit retinitis pigmentosa
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hematopoietic system
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• the hematocrit of 8 week old mice bearing the deletion in trans with the targeted allele is about 75% that of wild-type mice
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• blood of 8 week old complex heterozygous mice has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice
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• red blood cells of 8 week old complex heterozygous mice contain only about 38% as much hemoglobin (pg) as RBCs of wild-type mice
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• the hemoglobin concentration in red blood cells from 8 week old complex homozygotes is about 83% that of wild-type mice
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• 8 week old complex heterozygotes have a mean RBC volume approximately 45% that of wild-type mice
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• red blood cells of complex heterozygotes vary in shape and size
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• the platelet count of 8 week old complex heterozygous mice is about 4.27 times that of wild-type mice
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• reticulocytes of 8 week old complex heterozygous mice contain approximately half the cellular hemoglobin of those from wild-type mice
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• in blood of 8 week old complex heterozygotes, both the absolute number and the proportion of reticulocytes are significantly elevated over those in blood of mice with at least one wild-type allele
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homeostasis/metabolism
liver/biliary system
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• the liver iron content of complex heterozygotes is approximately 3-fold that of wild-type mice
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Analysis Tools