Biology Reference
In-Depth Information
TABLE 8.7.
Continued
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Orthodenticle
Otx2
Otx2
14 (19)
SD, E
T
34, 46, 47
homologue 2 KO
Protein
Prodh
,
Pro1
Prodh
16 (10.7)
R
T
48
dehydrogenase
KO
Quaking
qk
NK
17 (5.9)
R
S, C
49-51
Shiverer
Mbp
,
shi
,
Mbp
18 (55)
R
S
52
mld
Fibroblast growth
Fgf8
,
Aigf
Fgf8
19 (45)
R
T
53
factor 8 KO
Nociceptin
R
T
54
receptor 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, Pata et al. 1999; 2, Michaelson et al. 1996; 3, Propst et al. 1990; 4, Rauch 1992; 5, Reimer
et al. 1996; 6, Urbánek et al. 1994; 7, D'Arcangelo et al. 1995; 8, Hirotsune et al. 1995; 9, Martin 1981; 10,
Chisaka et al. 1992; 11, Gavalas et al. 1998; 12, Lufkin et al. 1991; 13, Mark et al. 1993; 14, Rossel and
Cappechi 1999; 15, Berrebi et al. 1990; 16, Zuo et al. 1997; 17, Kosel et al. 1998; 18, Street et al. 1998; 19,
Takahashi and Kitamura 1999; 20, Bock et al. 1983; 21, Deol et al. 1983; 22, Horner and Bock 1985; 23,
Horner et al. 1985; 24, Conlee et al. 1991; 25, Creel et al. 1983; 26, Moore et al. 1988; 27, Berrebi and
Mugnaini 1988; 28, Mathews et al. 1995; 29, Hamilton et al. 1996; 30, Wehr et al. 1997; 31, Acampora et
al. 1996; 32, Acampora et al. 1998; 33, Acampora et al. 1999; 34, Morsli et al. 1999; 35, Adlkofer et al.
1995; 36, Suter et al. 1992; 37, Zhou et al. 1994; 38, Gavalas et al. 1998; 39, Goddard et al. 1996; 40, Rossel
and Cappechi 1999; 41, Studer et al. 1996; 42, Bertoni et al. 1993; 43, O'Malley et al. 1995; 44, Stein et al.
1994; 45, Harman et al. 1954; 46, Acampora et al. 1995; 47, Matsuo et al. 1995; 48, Gogos et al. 1999; 49,
Ebersole et al. 1996; 50, Shah and Salamy 1980; 51, Sidman et al. 1964; 52, Fujiyoshi et al. 1994; 53, Meyers
et al. 1998; 54, Nishi et al. 1997.
Other mutants have been reported to have a reduced or absent inferior
colliculus (
Fkh5
, Wehr et al. 1997;
Fgf8
, Meyers et al. 1998;
Otx2
, Matsuo et
al. 1995;
Pax5
, Urbánek et al. 1994), or an enlarged inferior colliculus, as in
Otx1
mutants (Acampora et al. 1996). This does not necessarily correlate
with abnormal gross function (Reimer et al. 1996), although detailed analy-
ses have not yet been carried out in any of these mutants. Prolonged
interpeak intervals of brainstem-evoked potentials suggesting abnormal
central auditory system function have been reported in the myodystrophy
(
myd
, Mathews et al. 1995), shiverer (
Mbp
, Fujiyoshi et al. 1994), quaking
(
qkI
, Shah and Salamy 1980) and osteopetrosis (
Csf1
, Michaelson et al.
1996) mutants, but the structural basis of these functional defects is not
known. The quivering mutant has normal gross auditory-system anatomy,
