Phenotypes Associated with This Genotype

Genotype
MGI:6388692

• Allelic Composition: Jam3^tm1Lex/Jam3^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

mortality/aging

premature death ( J:281813 )

• of the 7 mice surviving the neonatal period, three mice die spontaneously at 4, 5, and 6 months

perinatal lethality, incomplete penetrance ( J:145994 )

• the expected frequency of mice is not found at 2 weeks after birth, however the expected frequency is seen before birth at E18.5, with the majority of mice dying within 48 hours after birth

behavior/neurological

abnormal behavior ( J:281813 )

• 3 of the 7 surviving mice that are sick or dying are jittery

decreased locomotor activity ( J:281813 )

• mice show decreased activity prior to death

hematopoietic system

increased common myeloid progenitor cell number ( J:145994 )

• increase in the number of common myeloid progenitors in the bone marrow

• however, frequency and total number of LSK cells are not different

increased bone marrow cell number ( J:145994 )

• mild increase in bone marrow cellularity is seen in surviving mice

• however, no differences in the frequency of mature lymphoid or myeloid cells are seen and stem cells and myeloid cells from fetal liver are normal in number and homing to the bone morrow

increased erythroid progenitor cell number ( J:145994 )

• bone marrow cells exhibit a higher colony-forming ability that controls, with an increase in number of erythroid colonies (BFU-E)

decreased neutrophil cell number ( J:145994 )

• surviving adult mice show a small but significant increase in neutrophil count

• however, no differences in red blood cell, white blood cell, lymphocyte, monocyte, or platelet counts are seen

increased granulocyte number ( J:145994 )

• the number of granulocytes is increased in surviving mice

• however, the number of erythroblasts and B cells are normal

homeostasis/metabolism

cyanosis ( J:145994 )

• some mice are cyanotic and gasp for air shortly after birth, filling the intestine with bubbles

growth/size/body

enlarged esophagus ( J:145994 , J:281813 )

• some mice exhibit megaesophagous (J:145994)

• both mice (one male and one female) sacrificed at 6 months show megaesophagus (J:281813)

postnatal growth retardation ( J:281813 )

• 5 of the 7 surviving mice are mildly growth retarded and weigh 17% less at 2 months of age

immune system

decreased neutrophil cell number ( J:145994 )

• surviving adult mice show a small but significant increase in neutrophil count

• however, no differences in red blood cell, white blood cell, lymphocyte, monocyte, or platelet counts are seen

increased granulocyte number ( J:145994 )

• the number of granulocytes is increased in surviving mice

• however, the number of erythroblasts and B cells are normal

digestive/alimentary system

enlarged esophagus ( J:145994 , J:281813 )

• some mice exhibit megaesophagous (J:145994)

• both mice (one male and one female) sacrificed at 6 months show megaesophagus (J:281813)

reproductive system

azoospermia ( J:145994 , J:281813 )

♂ • males fail to produce mature spermatozoa (J:145994)

male infertility ( J:145994 )

♂ • all males are infertile

cellular

azoospermia ( J:145994 , J:281813 )

♂ • males fail to produce mature spermatozoa (J:145994)

cardiovascular system

cardiovascular system phenotype ( J:281813 )

N • E17.5-E18.5 hearts exhibit normal structure, normal chamber sizes, an intact atrial and ventricular septum, and normal valves

N • surviving postnatal mice have normal cardiac structure and function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Jacobsen Syndrome	DOID:0111723	OMIM:147791	J:281813