Phenotypes Associated with This Genotype

Genotype
MGI:2669009

• Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * MF1

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

mortality/aging

perinatal lethality, complete penetrance ( J:56651 )

• approximately 16% of homozygous offsrping from intercrosses of heterozygous F1 mice survive to birth, but died immediately after due to impaired lung inflation

prenatal lethality, incomplete penetrance ( J:56651 )

• some embryos die in utero

muscle

abnormal diaphragm development ( J:114565 )

• abnormal primordial diaphragm with the caudal and more anterior aspect unilaterally missing

diaphragmatic hernia ( J:114565 )

• left-sided posterolateral defects

• however, some mice had no diaphragmatic hernias

respiratory system

pulmonary hypoplasia ( J:114565 )

endocrine/exocrine glands

absent adrenal gland ( J:56651 )

• observed at E18.5 in mice on a background involving MF1

hematopoietic system

increased splenocyte apoptosis ( J:56651 )

• increased apoptosis of primordial spleen cells

abnormal spleen development ( J:56651 )

• spleen primordium is smaller at E13.5 and the connection to the prospective pancreas is shortened

• at E15.5, only some thickening of the mesogastrium is observed and not a well-developed spleen as in wild-type

• stromal cells fo the spleen fail to develop

absent spleen ( J:56651 )

• almost complete absence of the spleen, correlated with increased apoptosis of primordial spleen cells

immune system

increased splenocyte apoptosis ( J:56651 )

• increased apoptosis of primordial spleen cells

abnormal spleen development ( J:56651 )

• spleen primordium is smaller at E13.5 and the connection to the prospective pancreas is shortened

• at E15.5, only some thickening of the mesogastrium is observed and not a well-developed spleen as in wild-type

• stromal cells fo the spleen fail to develop

absent spleen ( J:56651 )

• almost complete absence of the spleen, correlated with increased apoptosis of primordial spleen cells

cellular

increased splenocyte apoptosis ( J:56651 )

• increased apoptosis of primordial spleen cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:114565