Phenotypes Associated with This Genotype

Genotype
MGI:2182343

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:40605 )

• both sexes die soon after birth due to failure of urogenital system development

embryo

increased metanephric mesenchyme apoptosis ( J:40605 )

• at E12.5, the size of the metanephric blastema fails to increase and apoptotic cells are prominent in the remaining mesenchyme at E13.0

gonadal ridge hypoplasia ( J:40605 )

• at E11.5, thickening of coelomic epithelium is poor, gonadal cells are sparse, and the coelomic surface appears rough

• at E13.0, gonadal development is poor, unlike in wild-type embryos

• however, primordial germ cell migration to the genital ridge is normal at E11.5

absent Mullerian ducts ( J:40605 )

• Mullerian ducts are absent at E13

Wolffian duct degeneration ( J:40605 )

• Wolffian ducts degenerate at E11.5

reproductive system

absent seminal vesicle ( J:40605 )

♂

absent oviduct ( J:40605 )

♀

absent uterus ( J:40605 )

♀

absent cranial vagina ( J:40605 )

♀

absent internal female genitalia ( J:40605 )

♀ • at E16.5

absent efferent ductules of testis ( J:40605 )

♂

absent epididymis ( J:40605 )

♂

absent vas deferens ( J:40605 )

♂

absent internal male genitalia ( J:40605 )

♂ • at E16.5

abnormal primary sex determination ( J:40605 )

agonadal ( J:40605 )

• at E16.5, gonads are absent in both sexes

absent ovary ( J:40605 )

♀

absent testes ( J:40605 )

♂

renal/urinary system

abnormal kidney development ( J:40605 )

• kidney development is arrested following ureter budding and invasion of the metanephric mesenchyme

abnormal metanephric mesenchyme morphology ( J:40605 )

• at E12.5 and E13.5, no epithelial transformation of the metanephric mesenchyme is observed, unlike in wild-type embryos

• no pretubular cell aggregates,comma- or S-shaped bodies are ever found

increased metanephric mesenchyme apoptosis ( J:40605 )

• at E12.5, the size of the metanephric blastema fails to increase and apoptotic cells are prominent in the remaining mesenchyme at E13.0

abnormal metanephric ureteric bud development ( J:40605 )

• the invading ureteric bud begins to degenerate at E12.5 and disappears in the metanephric blastema by E13.0, unlike in wild-type embryos

absent kidney ( J:40605 )

• at E16.5, kidneys are absent in both sexes

• however, adrenal glands and bladder develop normally

absent ureter ( J:40605 )

• at E16.5, ureters are absent in both sexes

impaired branching involved in ureteric bud morphogenesis ( J:40605 )

• at E12.5 and E13.5, no branching of the ureteric bud is observed,unlike in wild-type embryos

abnormal ureteric bud tip morphology ( J:40605 )

• at E11.5, invasion of the ureteric bud into the metanephric blastema is observed but dilation of the tip of the ureteric bud is never seen, unlike in wild-type embryos

endocrine/exocrine glands

absent seminal vesicle ( J:40605 )

♂

agonadal ( J:40605 )

• at E16.5, gonads are absent in both sexes

absent ovary ( J:40605 )

♀

absent testes ( J:40605 )

♂

nervous system

abnormal pallium development ( J:163926 )

• mice exhibit a loss of the medial pallium compared with wild-type mice

absent dentate gyrus ( J:163926 )

cellular

increased metanephric mesenchyme apoptosis ( J:40605 )

• at E12.5, the size of the metanephric blastema fails to increase and apoptotic cells are prominent in the remaining mesenchyme at E13.0