Biology Reference
In-Depth Information
TABLE 8.1.
Continued
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Retinoic acid
Rarg
Rarg
15 (57.4)
R, E
T
42
receptor g KO
Eye-ear reduction
Ie
NK
X
SD
R
12
Sex-linked fidget,
slf, Brn4
Pou3f4
X (48.4)
SD
T, R
53-55
Pou3f4
KO
Pou3f4
Low set ears
Lse
NK
NK
SD
S
56
Micropinna-
Mp
NK
NK
SD
R
12
microphthalmia
Endothelin receptor
Ednra
Ednra
NK
R
T
57
Type A KO
Endothelin
Ece1
Ece1
NK
R
T
58
converting
enzyme-1 KO
Prx1
KO
Prx1, Mhox
Prx1
NK
R, E
T
6, 59
p73
KO
p73
p73
NK
R
T
60
Small ear
Sme
NK
NK
D
R
12
The table includes the major genes or loci known to be involved in deafness and/or balance defects. Only
the key references describing the ear phenotype and the initial identification of the gene are included,
so the list is not intended to be comprehensive. The chromosomal localization is given where this is
known, with the distance in cM from the centromere given in parentheses. KO, Knockout. NK, Not
known. Under Inheritance column: R, Recessive; D, Dominant; SD, Semidominant; E, Epistatic; M,
Maternal effect. Under Origin column: R, Radiation-induced; S, Spontaneous; T, Transgenics and knock-
outs; C, Chemical mutagenesis; I, Transgenic Insertional mutations.
References: 1, Juriloff et al. 1985; 2, Zoltewitz et al. 1999; 3, Johnson et al. 1999; 4, Xu et al. 1999; 5, Mo
et al. 1997; 6, ten Berge et al. 1998; 7, Juriloff et al. 1992; 8, McLeod et al. 1980; 9, Qui et al. 1997; 10,
Schorle et al. 1996; 11, Zhang et al. 1996; 12, Lyon et al. 1996; 13, Curry 1959; 14, Arikawa-Hirasawa
et al. 1999; 15, Satokata and Maas 1994; 16, Acampora et al. 1999b; 17, Depew et al. 1999; 18, Chisaka
et al. 1992; 19, Gavalas et al. 1998; 20, Lufkin et al. 1991; 21, Mark et al. 1993; 22, Rossel and Cappechi
1999; 23, Gendron-Maguire et al. 1993; 24, Mallo 1997; 25, Mallo and Gridley 1996; 26, Rijli et al. 1993;
27, Hardisty et al., in preparation; 28, Kingsley et al. 1992; 29, J. Cable and Steel, in preparation; 30,
Honarpour et al. 2000; 31, Naora et al. 1994; 32, Gavalas et al. 1998; 33, Goddard et al. 1996; 34, Rossel
and Cappechi 1999; 35, Studer et al. 1996; 36, Barrow and Cappechi 1996; 37, Altschuler et al. 1991; 38,
Bohne and Harding 1997; 39, Bonadio et al. 1990; 40, Dupé et al. 1999; 41, Ghyselinck et al. 1997; 42,
Lohnes et al. 1994; 43, Peters et al. 1998; 44, Rivera-Pérez et al. 1995; 45, Yamada et al. 1995; 46, Zhu
et al. 1997; 47, Kurihara et al. 1994; 48, Winograd et al. 1997; 49, Watanabe and Yamada 1999; 50,
Acampora et al. 1999a; 51, Matsuo et al. 1995; 52, Morsli et al. 1999; 53, Minowa et al. 1999; 54, Phippard
et al. 1999; 55 Phippard et al. 2000; 56, Theiler and Sweet 1986; 57, Clouthier et al. 1998; 58, Yanagisawa
et al. 1998; 59, Martin et al. 1995; 60, Yang et al. 2000.
the gene, and a radiation-induced deletion of a similar upstream region has
been found in the sex-linked fidget mouse mutant (de Kok et al. 1995; Phip-
pard et al. 2000). Finally, the
p73
knockout recently reported is the first to
show a single gene mutation conferring a predisposition to middle ear
inflammation, and this is mediated by the gene's involvement in the immune
system (Yang et al. 2000). Since otitis media in children can be a serious
clinical problem, the finding of a single gene predisposing to middle ear
