Hoxa-2

Normal rhombomeric and neural crest cell segmentation
Cleft palate
Lack of mesenchymal neural crest cell derivatives of the second arch
Multiple cranial skeletal defects
Change of second arch neural crest cell identity to first arch identity
Homeotic transformation of second to first arch skeletal elements
Duplication of ossification centers of bones of the middle ear
Transformation of the skeletal elements derived from second branchial arch into more anterior structures
Duplication of Meckel's cartilage adjacent to otic capsule
Death within 24 hours of birth

Gendron-Maguire et al., 1993
Rijli et al., 1993
METHODOLOGY ( FROM T-BASE)

((hoxa-2))

Line Name DNA Construct
1. Hoxa-2 (+/-) To consturct the targeting vector, a subclone of a cosmid containing a portion of the mouse Hoxa cluster was used. The genomic organization of the Hoxa-2 gene was deter....
2. Hoxa-2 (-/-) To consturct the targeting vector, a subclone of a cosmid containing a portion of the mouse Hoxa cluster was used. The genomic organization of the Hoxa-2 gene was deter....

PROTEIN SEQUENCE ( FROM SWISS-PROT)

ID   HXA2_MOUSE     STANDARD;      PRT;   372 AA.
AC   P31245;
DT   01-JUL-1993 (REL. 26, CREATED)
DT   01-JUL-1993 (REL. 26, LAST SEQUENCE UPDATE)
DT   01-JUL-1993 (REL. 26, LAST ANNOTATION UPDATE)
DE   HOMEOBOX PROTEIN HOX-A2 (HOX-1.11).
GN   HOXA-2 OR HOX-1.11.
OS   MUS MUSCULUS (MOUSE).
OC   EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA;
OC   EUTHERIA; RODENTIA.
RN   [1]
RP   SEQUENCE FROM N.A.
RA   GRIDLEY T.;
RL   SUBMITTED (XXX-1992) TO EMBL/GENBANK/DDBJ DATA BANKS.
RN   [2]
RP   SEQUENCE FROM N.A.
RX   MEDLINE; 92335281. [MEDLINE, MEDLARS]
RA   TAN D.P., FERRANTE J., NAZARALI A., SHAO X., KOZAK C.A., GUO V.,
RA   NIRENBERG M.;
RL   PROC. NATL. ACAD. SCI. U.S.A. 89:6280-6284(1992).
RN   [3]
RP   SEQUENCE OF 128-231 FROM N.A.
RX   MEDLINE; 92212934. [MEDLINE, MEDLARS]
RA   NAZARALI A., KIM Y., NIRENBERG M.;
RL   PROC. NATL. ACAD. SCI. U.S.A. 89:2883-2887(1992).
CC   -!- FUNCTION: SEQUENCE-SPECIFIC TRANSCRIPTION FACTOR WHICH IS PART OF
CC       A DEVELOPMENTAL REGULATORY SYSTEM THAT PROVIDES CELLS WITH
CC       SPECIFIC POSITIONAL IDENTITIES ON THE ANTERIOR-POSTERIOR AXIS.
CC   -!- SUBCELLULAR LOCATION: NUCLEAR.
CC   -!- SIMILARITY: STRONG WITH OTHER "ANTP-TYPE" HOMEOBOX PROTEINS.
CC       BELONGS TO THE PROBOSCIPEDIA SUBFAMILY.
DR   EMBL; M95599; G193898; -. [EMBL / GenBank]
DR   EMBL; M93148; G193911; -. [EMBL / GenBank]
DR   EMBL; M93292; G193913; -. [EMBL / GenBank]
DR   EMBL; M87801; G193909; -. [EMBL / GenBank]
DR   PIR; A42694; A42694.
DR   PIR; A46037; A46037.
DR   HSSP; P02833; 1SAN. [HSSP ENTRY / SWISS-3DIMAGE /
DR         PDB-ENTRY /  PDB-RASMOL / PDB-3DIMAGE]
DR   PROSITE; PS00027; HOMEOBOX.
DR   PROSITE; PS00032; ANTENNAPEDIA.
DR   PRODOM [Domain structure / List of seq. sharing at least 1 domain]
DR   SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW   HOMEOBOX; DNA-BINDING; DEVELOPMENTAL PROTEIN; NUCLEAR PROTEIN;
KW   TRANSCRIPTION REGULATION.
FT   DOMAIN       96    101       ANTP-TYPE HEXAPEPTIDE.
FT   DNA_BIND    139    198       HOMEOBOX.
SQ   SEQUENCE   372 AA;  40793 MW;  C61E1568 CRC32;
     MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP PFEQTIPSLN
     PGSHPRHGAG VGGRPKSSPA GSRGSPVPAG ALQPPEYPWM KEKKAAKKTA LPPAAASTGP
     ACLGHKESLE IADGSGGGSR RLRTAYTNTQ LLELEKEFHF NKYLCRPRRV EIAALLDLTE
     RQVKVWFQNR RMKHKRQTQC KENQNSEGKF KNLEDSDKVE EDEEEKSLFE QALSVSGALL
     EREGYTFQQN ALSQQQAPNG HNGDSQTFPV SPLTSNEKNL KHFQHQSPTV PNCLSTMGQN
     CGAGLNNDSP EAIEVPSLQD FNVFSTDSCL QLSDALSPSL PGSLDSPVDI SADSFDFFTD
     TLTTIDLQHL NY
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