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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Biktm1Ast
targeted mutation 1, Andreas Strasser
MGI:3612275
Summary 3 genotypes


Genotype
MGI:3612867
hm1
Allelic
Composition		 Biktm1Ast/Biktm1Ast
Genetic
Background		 C57BL/6-Biktm1Ast
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Biktm1Ast mutation (1 available); any Bik mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:104487 )
• homozygous mice do not display any gross malformations and have normal hematopoiesis, responses to apoptotic stimuli, and blood vessel development




Genotype
MGI:3612868
cx2
Allelic
Composition		 Bcl2tm1Dlo/Bcl2tm1Dlo
Biktm1Ast/Biktm1Ast
Genetic
Background		 B6.Cg-Bcl2tm1Dlo Biktm1Ast
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcl2tm1Dlo mutation (0 available); any Bcl2 mutation (41 available)
Biktm1Ast mutation (1 available); any Bik mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:104487 )
• all homozygotes die from polycystic kidney disease between 2 and 4 weeks of age

growth/size/body
polycystic kidney ( J:104487 )
• all homozygotes die from polycystic kidney disease between 2 and 4 weeks of age
decreased body size ( J:104487 )
• all homozygotes become runted

immune system
abnormal lymphocyte physiology ( J:104487 )
• survival of mature resting T and B cells in the absence of cytokines is impaired compared to wild-type cells and similar to mice homozygous for Bcl2tm1Dlo alone

renal/urinary system
polycystic kidney ( J:104487 )
• all homozygotes die from polycystic kidney disease between 2 and 4 weeks of age

hematopoietic system
abnormal lymphocyte physiology ( J:104487 )
• survival of mature resting T and B cells in the absence of cytokines is impaired compared to wild-type cells and similar to mice homozygous for Bcl2tm1Dlo alone




Genotype
MGI:3612869
cx3
Allelic
Composition		 Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Biktm1Ast/Biktm1Ast
Genetic
Background		 B6.Cg-Bcl2l11tm1.1Ast Biktm1Ast
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcl2l11tm1.1Ast mutation (4 available); any Bcl2l11 mutation (36 available)
Biktm1Ast mutation (1 available); any Bik mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body weight ( J:103605 )
• seen in about 50% of mice
enlarged spleen ( J:103605 )
• increase in size is similar to mice homozygous for Bcl2l11tm1.1Ast alone

reproductive system
abnormal seminiferous tubule morphology ( J:103605 )
• variable abnormalities are seen including vacuolation, multi-nucleate syncytia, accumulation of spermatocytes, and apparent reduction in tubular cellularity, diameter, and lumen size
• the spermatogonia layer is thicker than in wild-type being up to 3 cell layers thick
decreased testis weight ( J:103605 )
• testes weight is reduced at P21 and in adults testes weigh about 60% that of wild-type; however serum concentrations of inhibin and follicle stimulating hormone are normal
abnormal spermatogenesis ( J:103605 )
• at P15 the number of germ cells in the testis is increased and these are mostly c-Kit+ early germ cells, but in adult males the number of germ cells is decreased by up to 10-fold compared to wild-type
• in adult males the proportion of early germ cells is increased up to 10-fold compared to controls; however the absolute number is similar to controls
arrest of male meiosis ( J:103605 )
• arrest is later than in Baxtm1Sjk homozygotes as some round spermatids are present but no elongating spermatids are seen
male infertility ( J:103605 )
• males but not females are sterile

immune system
enlarged spleen ( J:103605 )
• increase in size is similar to mice homozygous for Bcl2l11tm1.1Ast alone
abnormal B cell differentiation ( J:103605 )
• in the bone marrow the pro/pre-B and immature B cell populations are reduced and the population of mature b cells is increased similar to mice homozygous for Bcl2l11tm1.1Ast alone
decreased pro-B cell number ( J:103605 )
• in bone marrow
abnormal T cell differentiation ( J:103605 )
• abnormalities in T cell development in the thymus (decrease in pre-T cells and increase in pro- and mature T cells) are identical to those in mice homozygous for Bcl2l11tm1.1Ast alone
increased granulocyte number ( J:103605 )
• similar to mice homozygous for Bcl2l11tm1.1Ast alone
decreased pre-B cell number ( J:103605 )
• in bone marrow
increased B cell number ( J:103605 )
• increase in mature B cells in the spleen and bone marrow similar to mice homozygous for Bcl2l11tm1.1Ast alone
increased T cell number ( J:103605 )
• increase in mature T cells in the spleen similar to mice homozygous for Bcl2l11tm1.1Ast alone
increased monocyte cell number ( J:103605 )
• similar to mice homozygous for Bcl2l11tm1.1Ast alone
abnormal lymphocyte physiology ( J:103605 )
• survival of mature T cells is increased following cytokine withdrawal or treatment with ionomycin similar to responses in mice homozygous for Bcl2l11tm1.1Ast alone

cellular
arrest of male meiosis ( J:103605 )
• arrest is later than in Baxtm1Sjk homozygotes as some round spermatids are present but no elongating spermatids are seen

hematopoietic system
enlarged spleen ( J:103605 )
• increase in size is similar to mice homozygous for Bcl2l11tm1.1Ast alone
abnormal B cell differentiation ( J:103605 )
• in the bone marrow the pro/pre-B and immature B cell populations are reduced and the population of mature b cells is increased similar to mice homozygous for Bcl2l11tm1.1Ast alone
decreased pro-B cell number ( J:103605 )
• in bone marrow
abnormal T cell differentiation ( J:103605 )
• abnormalities in T cell development in the thymus (decrease in pre-T cells and increase in pro- and mature T cells) are identical to those in mice homozygous for Bcl2l11tm1.1Ast alone
increased granulocyte number ( J:103605 )
• similar to mice homozygous for Bcl2l11tm1.1Ast alone
decreased pre-B cell number ( J:103605 )
• in bone marrow
increased B cell number ( J:103605 )
• increase in mature B cells in the spleen and bone marrow similar to mice homozygous for Bcl2l11tm1.1Ast alone
increased T cell number ( J:103605 )
• increase in mature T cells in the spleen similar to mice homozygous for Bcl2l11tm1.1Ast alone
increased monocyte cell number ( J:103605 )
• similar to mice homozygous for Bcl2l11tm1.1Ast alone
abnormal lymphocyte physiology ( J:103605 )
• survival of mature T cells is increased following cytokine withdrawal or treatment with ionomycin similar to responses in mice homozygous for Bcl2l11tm1.1Ast alone

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:103605 )
• variable abnormalities are seen including vacuolation, multi-nucleate syncytia, accumulation of spermatocytes, and apparent reduction in tubular cellularity, diameter, and lumen size
• the spermatogonia layer is thicker than in wild-type being up to 3 cell layers thick
decreased testis weight ( J:103605 )
• testes weight is reduced at P21 and in adults testes weigh about 60% that of wild-type; however serum concentrations of inhibin and follicle stimulating hormone are normal




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12/10/2024
MGI 6.24 		The Jackson Laboratory