Phenotypes Associated with This Genotype

Genotype
MGI:3615496

• Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

premature death ( J:76041 )

• homozygous mice begin to die after 7 months of age

cellular

abnormal chromosome number ( J:57882 )

• after 20 weeks of selection with L-aspartic acid, N-(phosphonoacetyl) (PALA, an assay for gene amplification) homozygous MEFs develop resistance to up to 25uM PALA unlike wild-type cells which do not develop resistance

abnormal cell cycle checkpoint function ( J:57882 )

• ionizing radiation does not induce a strong G1 delay unlike in wild-type or Gadd45a null cells

increased T cell proliferation ( J:76041 )

• proliferation in response to cytokines is increased compared to wild-type; however proliferation in response to anti-CD3 is not

increased fibroblast proliferation ( J:57882 )

• low passage MEFs have a plating efficiency of about 1.2% compared to 0.005% in wild-type cells, 0.025% in Gadd45a null cells, 1.6% in Trp53 null cells, and up to 1.4% in Gadd45a Cdkn1a double null cells

immune system

increased T cell proliferation ( J:76041 )

• proliferation in response to cytokines is increased compared to wild-type; however proliferation in response to anti-CD3 is not

increased autoantibody level ( J:76041 )

increased anti-double stranded DNA antibody level ( J:76041 )

• after 7 months of age in female homozygotes the occurrence and titer of antibodies against double stranded DNA is increased compared to wild-type mice

increased anti-histone antibody level ( J:76041 )

• after 7 months of age in female homozygotes the occurrence and titer of antibodies against histones is increased compared to wild-type mice

increased anti-single stranded DNA antibody level ( J:76041 )

• after 7 months of age in female homozygotes the occurrence and titer of antibodies against single stranded DNA is increased compared to wild-type mice

hematopoietic system

increased T cell proliferation ( J:76041 )

• proliferation in response to cytokines is increased compared to wild-type; however proliferation in response to anti-CD3 is not

integument

abnormal auchene hair morphology ( J:125208 )

• the proportion of awl and auchene hairs are increased relative to in wild-type mice but not as much as in heterozygous mice

abnormal awl hair morphology ( J:125208 )

• the proportion of awl and auchene hairs are increased relative to in wild-type mice but not as much as in heterozygous mice

decreased zigzag hair amount ( J:125208 )

• the proportion of zigzag hair is reduced relative to in wild-type mice but not as much as in heterozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:76041