PMID- 9182764
OWN - NLM
STAT- MEDLINE
DCOM- 19970710
LR  - 20231120
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 89
IP  - 5
DP  - 1997 May 30
TI  - Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for 
      osteoblast differentiation and bone development.
PG  - 765-71
AB  - We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory 
      failure shortly after birth. Analysis of their skeletons revealed an absence of 
      osteoblasts and bone. Heterozygous mice showed specific skeletal abnormalities 
      that are characteristic of the human heritable skeletal disorder, cleidocranial 
      dysplasia (CCD). These defects are also observed in a mouse Ccd mutant for this 
      disease. The Cbfa1 gene was shown to be deleted in the Ccd mutation. Analysis of 
      embryonic Cbfa1 expression using a lacZ reporter gene revealed strong expression 
      at sites of bone formation prior to the earliest stages of ossification. Thus, 
      the Cbfa1 gene is essential for osteoblast differentiation and bone formation, 
      and the Cbfa1 heterozygous mouse is a paradigm for a human skeletal disorder.
FAU - Otto, F
AU  - Otto F
AD  - Imperial Cancer Research Fund, Lincoln's Inn Fields, London, United Kingdom.
FAU - Thornell, A P
AU  - Thornell AP
FAU - Crompton, T
AU  - Crompton T
FAU - Denzel, A
AU  - Denzel A
FAU - Gilmour, K C
AU  - Gilmour KC
FAU - Rosewell, I R
AU  - Rosewell IR
FAU - Stamp, G W
AU  - Stamp GW
FAU - Beddington, R S
AU  - Beddington RS
FAU - Mundlos, S
AU  - Mundlos S
FAU - Olsen, B R
AU  - Olsen BR
FAU - Selby, P B
AU  - Selby PB
FAU - Owen, M J
AU  - Owen MJ
LA  - eng
GR  - AR36819/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (Core Binding Factor Alpha 1 Subunit)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
CIN - Cell. 1997 May 30;89(5):677-80. PMID: 9182754
MH  - Animals
MH  - Bone Development/*genetics
MH  - Cell Differentiation/genetics
MH  - Cleidocranial Dysplasia/*genetics
MH  - Core Binding Factor Alpha 1 Subunit
MH  - Gene Deletion
MH  - Gene Targeting
MH  - Humans
MH  - Mice
MH  - Mice, Mutant Strains
MH  - *Neoplasm Proteins
MH  - Osteoblasts/*pathology
MH  - Syndrome
MH  - Transcription Factors/*genetics
EDAT- 1997/05/30 00:00
MHDA- 1997/05/30 00:01
CRDT- 1997/05/30 00:00
PHST- 1997/05/30 00:00 [pubmed]
PHST- 1997/05/30 00:01 [medline]
PHST- 1997/05/30 00:00 [entrez]
AID - S0092-8674(00)80259-7 [pii]
AID - 10.1016/s0092-8674(00)80259-7 [doi]
PST - ppublish
SO  - Cell. 1997 May 30;89(5):765-71. doi: 10.1016/s0092-8674(00)80259-7.