All Phenotypes Chmp5<tm1Gho> MGI Mouse

embryonic lethality during organogenesis, complete penetrance ( J:107913 )

• die around E10

abnormal intracellular organelle morphology ( J:107913 )

• primary embryonic cells from E8.5 embryos contain enlarged vacuole-like structures that expression analysis indicates are late endosomes

• MEFs from E9.0 embryos stimulated with IFNG contain enlarged endosomes that are positive for MHC II molecules

• at E8.25 multivesicular bodies (MVB) are enlarged and heavily packed with internal vesicles and electron dense content and the fraction of total cell volume occupied by MVBs is increased about 1.5-fold

• increase in MVP content is most clearly seen in endodermal cells

abnormal cell physiology ( J:107913 )

• embryonic stem cells from E3.5 embryos cultured with FITC-conjugated dextran display a decreased capacity to degrade material after internalization; however, internalization of the FITC-conjugated dextran is not impaired

abnormal embryo development ( J:107913 )

• at E8.75 embryos are disorganized

abnormal dorsal-ventral axis patterning ( J:107913 )

• defective ventral folding morphogenesis

decreased embryo size ( J:107913 )

• at E7.5 most embryos are smaller than wild-type and display severe developmental abnormalities

abnormal neural plate morphology ( J:107913 )

• abnormal head fold development seen at E8.5

abnormal neural tube morphology ( J:107913 )

• at E8.75

abnormal somite development ( J:107913 )

• abnormal somite segmentation at E8.5 and E8.75

abnormal allantois morphology ( J:107913 )

• at E8.5

abnormal chorioallantoic fusion ( J:107913 )

• at E8.5 and E8.75

cardia bifida ( J:107913 )

• cardia bifida present at E8.5 with massive cell death in the ventral region