Phenotypes associated with this allele

• Allele Symbol: Del(1)1Brk
• Allele Name: deletion, Chr 1, Jane Barker 1
• Allele ID: MGI:3608909
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(1)1Brk/Del(1)1Brk	B6.CBA-Del(1)1Brk	MGI:3609191
hm2	Del(1)1Brk/Del(1)1Brk	CBA/J-Del(1)1Brk	MGI:3609189
hm3	Del(1)1Brk/Del(1)1Brk	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:3609942
hm4	Del(1)1Brk/Del(1)1Brk	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:3609192
cx5	Del(1)1Brk/Steap3^tm1.1Mdf	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:3609989

Genotype
MGI:3609191

hm1

• Allelic Composition: Del(1)1Brk/Del(1)1Brk
• Genetic Background: B6.CBA-Del(1)1Brk

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:100202 )

• Background Sensitivity: of the mutants that are born, most die prior to P7, with a few surviving past weaning, on the C57BL/6J background

prenatal lethality, incomplete penetrance ( J:100202 )

• significant prenatal lethality on the C57BL/6J background, as only observe 7.3% of homozygotes at birth instead of the expected 25%

growth/size/body

decreased birth body size ( J:100202 )

• runted at birth

hematopoietic system

anemia ( J:100202 )

nervous system

hydrocephaly ( J:100202 )

• Background Sensitivity: evident on the C57BL/6J background but not on a mixed 129S6/SvEvTac background

reproductive system

male infertility ( J:100202 )

♂

integument

sparse hair ( J:100202 )

• particularly on dorsal surfaces

pallor ( J:100202 )

Genotype
MGI:3609189

hm2

• Allelic Composition: Del(1)1Brk/Del(1)1Brk
• Genetic Background: CBA/J-Del(1)1Brk

growth/size/body

decreased birth body size ( J:100202 )

• runted at birth

hematopoietic system

anemia ( J:100202 )

reproductive system

male infertility ( J:100202 )

♂

integument

pallor ( J:100202 )

Genotype
MGI:3609942

hm3

• Allelic Composition: Del(1)1Brk/Del(1)1Brk
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

hematopoietic system

abnormal erythrocyte morphology ( J:103440 )

increased erythrocyte cell number ( J:103440 )

decreased hematocrit ( J:103440 )

• the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild-type mice

abnormal hemoglobin ( J:103440 )

decreased hemoglobin content ( J:103440 )

• 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

decreased mean corpuscular hemoglobin ( J:103440 )

• red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild-type mice

decreased mean corpuscular hemoglobin concentration ( J:103440 )

• the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild-type mice

decreased mean corpuscular volume ( J:103440 )

• 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild-type mice

anisopoikilocytosis ( J:103440 )

• red blood cells of homozygous deletants vary in shape and size

thrombocytosis ( J:103440 )

• the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild-type mice

abnormal reticulocyte morphology ( J:103440 )

• reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild-type mice

reticulocytosis ( J:103440 )

• 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

homeostasis/metabolism

abnormal iron homeostasis ( J:103440 )

• the erythrocyte zinc-to-iron protoporphyrin IX ratio of 8 week old homozygous deletant mice is approximately 2.7-fold that of wild-type mice

increased liver iron level ( J:103440 )

• the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice

liver/biliary system

increased liver iron level ( J:103440 )

• the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice

Genotype
MGI:3609192

hm4

• Allelic Composition: Del(1)1Brk/Del(1)1Brk
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

mortality/aging

mortality/aging ( J:100202 )

N • Background Sensitivity: most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background

nervous system

nervous system phenotype ( J:100202 )

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

hematopoietic system

microcytic anemia ( J:100202 )

• anemia tends to improve after 4 weeks of age

increased bone marrow cell number ( J:100202 )

• erythroid hyperplasia in the marrow

abnormal erythrocyte morphology ( J:100202 )

decreased hematocrit ( J:100202 )

decreased hemoglobin content ( J:100202 )

• hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)

• erythrocytes are hypochromic

decreased mean corpuscular hemoglobin ( J:100202 )

decreased mean corpuscular hemoglobin concentration ( J:100202 )

decreased mean corpuscular volume ( J:100202 )

anisocytosis ( J:100202 )

anisopoikilocytosis ( J:100202 )

microcytosis ( J:100202 )

• erythrocytes are microcytic

polychromatophilia ( J:100202 )

thrombocytosis ( J:100202 )

increased leukocyte cell number ( J:100202 )

• at all ages

reticulocytosis ( J:100202 )

• reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia

abnormal spleen morphology ( J:100202 )

enlarged spleen ( J:100202 )

• splenomegaly tends to improve with age

increased spleen red pulp amount ( J:100202 )

• red pulp is expanded and occupied by sheets of erythroid precursors

abnormal spleen white pulp morphology ( J:100202 )

• expanded red pulp effaces the normal white pulp architecture

homeostasis/metabolism

abnormal iron homeostasis ( J:100202 )

• 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

abnormal iron level ( J:100202 )

• bone marrow reticuloendothelial iron is present

abnormal circulating iron level ( J:100202 )

• at 4 weeks of age serum iron, total iron binding concentration, and transferrin saturations are elevated, however these levels normalize over time

abnormal liver iron level ( J:100202 )

• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

immune system

increased leukocyte cell number ( J:100202 )

• at all ages

abnormal spleen morphology ( J:100202 )

enlarged spleen ( J:100202 )

• splenomegaly tends to improve with age

increased spleen red pulp amount ( J:100202 )

• red pulp is expanded and occupied by sheets of erythroid precursors

abnormal spleen white pulp morphology ( J:100202 )

• expanded red pulp effaces the normal white pulp architecture

reproductive system

absent sperm flagellum ( J:130396 )

♂ • sperm heads are present and appear normal, however there are no visible flagella

azoospermia ( J:130396 )

♂ • absence of mature spermatozoa in the seminiferous tubules and in the epididymis

testis hypoplasia ( J:100202 )

♂

abnormal spermiogenesis ( J:130396 )

♂ • defect late in spermiogenesis

male infertility ( J:100202 , J:130396 )

♂ (J:100202)

♂ (J:130396)

endocrine/exocrine glands

testis hypoplasia ( J:100202 )

♂

liver/biliary system

enlarged liver ( J:100202 )

• slight hepatomegaly, not due to extramedullary hematopoiesis

abnormal liver iron level ( J:100202 )

• elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system

cardiovascular system

enlarged heart ( J:100202 )

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

cellular

absent sperm flagellum ( J:130396 )

♂ • sperm heads are present and appear normal, however there are no visible flagella

azoospermia ( J:130396 )

♂ • absence of mature spermatozoa in the seminiferous tubules and in the epididymis

abnormal respiratory motile cilium physiology ( J:130396 )

• 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

abnormal respiratory motile cilium physiology ( J:130396 )

• 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

impaired mucociliary clearance ( J:130396 )

• accumulation of mucus in the sinuses, although no evidence of inflammation

abnormal respiration ( J:130396 )

• respiratory abnormalities

growth/size/body

growth/size/body region phenotype ( J:130396 )

N • mice do not exhibit situs inversus

enlarged heart ( J:100202 )

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

enlarged liver ( J:100202 )

• slight hepatomegaly, not due to extramedullary hematopoiesis

enlarged spleen ( J:100202 )

• splenomegaly tends to improve with age

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:130396 )

N • mice do not exhibit otitis media

vision/eye

vision/eye phenotype ( J:130396 )

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

Genotype
MGI:3609989

cx5

• Allelic Composition: Del(1)1Brk/Steap3^tm1.1Mdf
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J

hematopoietic system

abnormal erythrocyte morphology ( J:103440 )

increased erythrocyte cell number ( J:103440 )

decreased hematocrit ( J:103440 )

• the hematocrit of 8 week old mice bearing the deletion in trans with the targeted allele is about 75% that of wild-type mice

decreased hemoglobin content ( J:103440 )

• blood of 8 week old complex heterozygous mice has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice

decreased mean corpuscular hemoglobin ( J:103440 )

• red blood cells of 8 week old complex heterozygous mice contain only about 38% as much hemoglobin (pg) as RBCs of wild-type mice

decreased mean corpuscular hemoglobin concentration ( J:103440 )

• the hemoglobin concentration in red blood cells from 8 week old complex homozygotes is about 83% that of wild-type mice

decreased mean corpuscular volume ( J:103440 )

• 8 week old complex heterozygotes have a mean RBC volume approximately 45% that of wild-type mice

anisopoikilocytosis ( J:103440 )

• red blood cells of complex heterozygotes vary in shape and size

thrombocytosis ( J:103440 )

• the platelet count of 8 week old complex heterozygous mice is about 4.27 times that of wild-type mice

abnormal reticulocyte morphology ( J:103440 )

• reticulocytes of 8 week old complex heterozygous mice contain approximately half the cellular hemoglobin of those from wild-type mice

reticulocytosis ( J:103440 )

• 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

homeostasis/metabolism

abnormal iron homeostasis ( J:103440 )

• the erythrocyte zinc-to-iron protoporphyrin IX ratio of 8 week old complex heterozygous mice is approximately 4.7-fold that of wild-type mice

increased liver iron level ( J:103440 )

• the liver iron content of complex heterozygotes is approximately 3-fold that of wild-type mice

liver/biliary system

increased liver iron level ( J:103440 )

• the liver iron content of complex heterozygotes is approximately 3-fold that of wild-type mice