Biology Reference
In-Depth Information
TABLE 8.5. Mouse mutants with tectorial membrane or otolithic membrane defects
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Tilted head
thd, ub
NK
1 (59.9)
R
S, R
1, 2
Activating
Atf2
,
Atf2
2
R
T
3
transcription
Creb2
factor 2 KO
Pallid
pa
,
Pallidin
2 (67.6)
R, M
S
4-11
Pallidin
Lethal milk
lm
,
Znt4
,
Slc30a4
2 (69)
R, M
S
12, 13
Slc30a4
Maloney sarcoma
Mos
Mos
4 (0)
SD
T
14, 15
oncogene KO
Tilted
tlt
NK
5 (24)
R
S
16, 17
Deafwaddler,
dfw
,
wri
,
Atp2b2
6 (49.5)
R, SD
S
18-20
Wriggle mouse
Pmca2
,
Sagami,
Pmca
Atp2b2
2
KO
Otogelin KO
Otog
,
Otgn
Otog
7
R
T
21
a tectorin KO
Tecta
Tecta
9 (25)
R
T
22
Mocha
mh
,
Ap3d
Ap3d
10 (43)
R, M
S
23-25
Cocked
co
NK
11 (46)
R
S
26
Jackson shaker
js
NK
11 (77)
R
S
27-30
Muted
mu
NK
13 (21)
R
S
31
Homeobox,
Msx2
,
Hox8
Msx2
13 (32)
D
T
32
msh-like 2
Torpedo
tpd
NK
15
33
Head tilt
het
NK
17 (4.1)
R
S
34, 35
Col11a2
KO
Col11a2
Col11a2
17 (18.5)
R
T
36
Twirler
Tw
NK
18 (3)
SD
S, I?
37, 38
Thyroid hormone
Thra
Thra
E
T
39, 40
receptor a KO
Thyroid hormone
Thrb
Thrb
R, E
T
39-42
receptor b KO
Careener
NK
43
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, Erway et al. 1971; 2, Lim et al. 1978; 3, Reimold et al. 1996; 4, Erway et al. 1971; 5, Huang
et al. 1999; 6, Lim and Erway 1974; 7, Lyon 1951; 8, Lyon 1955; 9, Schrader et al. 1973; 10,11, Trune and
Lim 1983a,b; 12, Erway and Grider 1984; 13, Huang and Gitshier 1997; 14, Propst et al. 1990; 15, Rauch
1992; 16, Bohne and Harding 1997; 17, Ornitz et al. 1998; 18, Kosel et al. 1998; 19, Street et al. 1998; 20,
Takahashi and Kitamura 1999; 21, Simmler et al. 2000; 22, Legan et al. 2000; 23, Kantheti et al. 1998;
24, Lane and Deol 1974; 25, Rolfson and Erway 1984; 26, Peterson 1970; 27, Kitamura et al. 1992;
28-30, Kitamura et al. 1991a, b, c; 31, Lyon and Meredith 1969; 32, Hoffman et al. 1995; 33, D. Beier, pers.
comm. 2000; 34, Bergstrom et al. 1998; 35, Jones et al. 1999; 36, McGuirt et al. 1999; 37, Lyon 1958; 38,
Ting et al. 1994; 39, Rüsch et al. 1998; 40, M Kelley and D Forrest pers. comm. 2000; 41, Campos Barros
et al. 1998; 42, Forrest et al. 1996; 43, Chai and Chiang 1962.
