Biology Reference
In-Depth Information
TABLE 8.2.
Continued
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Retinaldehyde
Raldh2
Raldh2
NK
R
T
107
dehydrogenase2
KO
Retinoic acid
Rarc
Rarc
NK
R, E
T
70
receptor c KO
Prx1
KO
Prx1
Prx1
NK
R, E
T
14, 108
Mhox
Forkhead
Fkh10
Fkh10
NK
R
T
109
homologue
10 KO
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, Knock-out. 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, Crenshaw et al. 1991; 2, Abdelhak et al. 1997; 3, Johnson et al. 1999; 4, Xu et al. 1999; 5,
Deol 1966a; 6, Epstein et al. 1991; 7, Fleming et al. 1996; 8, Goulding et al. 1993; 9, Steel and Smith 1992;
10, Deol 1964a; 11, Millonig et al. 2000; 12, Wilson 1985; 13, Wilson and Wyatt 1995; 14, ten Berge et al.
1998; 15, Truslove 1956; 16, Qiu et al. 1997; 17, Cordes and Barsh 1994; 18, Deol 1964b; 19, Eichman et
al. 1997; 20, Frohman et al. 1993; 21, McKay et al. 1994; 22, McKay et al. 1996; 23, Ruben 1973; 24, Schorle
et al. 1996; 25, Zhang et al. 1996; 26, Nolan et al. 1995; 27, Bohne and Harding 1997; 28, Propst et al. 1990;
29, Rauch 1992; 30, Deol 1976; 31, Deol 1980; 32, Deol 1983; 33, Khaze'I 1974; 34, Lyon et al. 1996; 35,
Acampora et al. 1999b; 36, Depew et al. 1999; 37, Chisaka et al. 1992; 38, Gavalas et al. 1998; 39, Lufkin
et al. 1991; 40, Mark et al. 1993; 41, Rossel and Cappechi 1999; 42, Gendron-Maguire et al. 1993; 43, Mallo
1997; 44, Mallo and Gridley 1996; 45, Rijli et al. 1993; 46, Deol 1974; 47, Van Abeelen and Van Der Kroon
1967; 48, De Moerlooze et al. 2000; 49, Hadrys et al. 1998; 50, Wang et al. 1998; 51, Chan et al. 2000; 52,
Hardisty et al., in preparation; 53, Mansour et al. 1993; 54, Honarpour et al. 2000; 55, Kacser et al. 1979;
56, Taylor et al. 1993; 57, Acampora et al. 1996; 58, Acampora et al. 1998; 59, Acampora et al. 1999a; 60,
Morsli et al. 1999; 61, Henkemeyer et al. 1995; 62, Altschuler et al. 1991; 63, Bonadio et al. 1990; 64,
Gavalas et al. 1998; 65, Goddard et al. 1996; 66, Rossel and Cappechi 1999; 67, Studer et al. 1996; 68,
Dupé et al. 1999; 69, Ghyselinck et al. 1997; 70, Lohnes et al. 1994; 71, Hui and Joiner 1993; 72, Johnson
1967; 73, Teng et al. 2000; 74, Matsuo et al. 1995; 75, Berggren et al. 1997; 76, Pace et al. 1997; 77, Van De
Water and Galinovic-Schwartz 1987; 78, Vetter et al. 1996; 79, Letts et al. 2000; 80, Deol 1966b; 81, Zeng
et al. 1997; 82, Lyon 1958; 83, Ting et al. 1994; 84, Delpire et al. 1999; 85, Deol 1963; 86, Deol 1968; 87,
Dixon et al. 1999; 88, Flagella et al. 1999; 89, Johnson et al. 1998; 90, Deol and Lane 1966; 91, Wenngren
and Anniko 1988; 92, Wenngren and Anniko 1990; 93, Favor et al. 1996; 94, Keller et al. 1994; 95, Torres
et al. 1996; 96, Minowa et al. 1999; 97, Phippard et al. 1999; 98, Phippard et al. 2000; 99, McNutt 1968;
100, Deol and Dickie 1967; 101, Lyon 1960; 102, Deol 1980; 103, Bonnevie 1936; 104, Deol 1976; 105, Stein
and Huber 1960; 106, Salminen et al. 2000; 107, Niederreither et al. 2000; 108, Martin et al. 1995; 109,
Hulander et al. 1998.
cyst (Fig. 8.2D). Auditory function may be undetectable in some of these
mutants, or may be normal in mutants with only minor vestibular malfor-
mations, but in many cases the only test of hearing has been the Preyer
reflex, which cannot be taken to indicate normal thresholds for cochlear
