Biology Reference
In-Depth Information
TABLE 8.3.
Continued
Key
Mutant name
Symbol
Gene
Chromosome
Inheritance
Origin
references
Hypothyroidism
hyt
,
pet
,
Tshr
12 (37)
R
S
79-81
Tshr
Jagged2 KO
Jag2
,
sm
,
Jag2
12 (57.9)
R
T
82
Serh
Homeobox,
Msx2
,
Msx2
13 (32)
D
T
83
msh-like 2
Hox8
Neurogenin1 KO
Ngn1
,
Neurod3
13 (35)
R
T
84, 85
Neurod3
Dreidel,
Pou4f3
KO
Pou4f3
,
ddl
,
Pou4f3
18 (24)
R
S, T
86-89
Brn3.1
,
Brn3c
Deafness
dn
NK
19 (15)
R
S
90-96
Dystrophin
Dmd
,
mdx
Dmd
X (32)
R
S, C
97
Gyro,
Gy
,
Hyp
,
Phex
X (65.4)
SD
R, S
98-103
Hypophosphataemia
Phex
,
Pex
Thyroid hormone
Thra
Thra
E
T
104
receptor a
Thyroid hormone
Thrb
Thrb
R, E
T
104-106
receptor b
erbB4
receptor tg
erbB4
erbB4
D
T
107
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, Littlewood Evans and Müller 2000; 2, Reimold et al. 1996; 3, Ikeda et al. 1999; 4, Kiernan
et al. 1999; 5, Cable and Steel 1998; 6, Deol 1954; 7, Mikaelian et al. 1965; 8, Propst et al. 1990; 9, Rauch
1992; 10, Lane 1963; 11, Deol 1954; 12, Sjöström and Anniko 1992; 13, Steel and Bock 1983; 14, Colvin
et al. 1996; 15, Deol 1956a; 16, Sidman et al. 1966; 17, Vetter et al. 1999; 18, Bock et al. 1982; 19, Demêmes
and Sans 1985; 20, Deol 1981; 21, Deol and Gluecksohn-Waelsch 1979; 22, Horner et al. 1985; 23, Keith-
ley and Feldman 1983; 24, Lenoir and Pujol 1984; 25, Schrott et al. 1989; 26, Sobkowicz et al. 1999; 27,
Tucker et al. 1999; 28, Whitlon and Sobkowicz 1991; 29, Whitlon et al. 1996; 30, Bermingham et al. 1999;
31, Kosel et al. 1998; 32, Street et al. 1998; 33, Takahashi and Kitamura 1999; 34, Chen and Segil 1999;
35, Löwenheim et al. 1999; 36, Watanabe et al. 1994; 37, Yoo et al. 1991; 38, Deol 1956a; 39, Gibson et al.
1995; 40, Hasson et al. 1997; 41, Kikuchi and Hilding 1965; 42, Mburu et al. 1997; 43, Mikaelian and Ruben
1964; 44, Richardson et al. 1997; 45, Self et al. 1998; 46, Shnerson et al. 1983; 47, Steel and Harvey 1992;
48, Kleyn et al. 1996; 49, Noben-Trauth et al. 1996; 50, Ohlemiller et al. 1995; 51, Ohlemiller et al. 1997;
52, Avraham et al. 1995; 53, Deol and Green 1966; 54, Self et al. 1999; 55, Deol and Robins 1962; 56, Deol
1956a; 57, Deol 1956b; 58, Deol 1974; 59, Mikaelian et al. 1965; 60, Otani et al. 1995; 61, Yonezawa et al.
1996; 62, Noben-Trauth et al. 1997; 63, Erway et al. 1996; 64, Johnson et al. 1997; 65, Willott and Erway
1998; 66, Bohne and Harding 1997; 67, Alagrammam et al. 1999; 68, Osako and Hilding 1971; 69, Kan-
theti et al. 1998; 70, Lane and Deol 1974; 71, Rolfson and Erway 1984; 72, Deol 1954; 73, Probst et al.
1998; 74, Sobin et al. 1982; 75-77, Kitamura et al. 1991a, b, c; 78, Kitamura et al. 1992; 79, Bertoni et al.
1993; 80, O'Malley et al. 1995; 81, Stein et al. 1994; 82, Lanford et al. 1999; 83, Hoffman et al. 1995; 84,
Ma et al. 1998; 85, Fritzsch et al. 1999a; 86, Erkman et al. 1996; 87, Xiang et al. 1997; 88, Xiang et al. 1998;
89, W. Frankel pers. comm. 2000; 90, Bock and Steel 1983; 91, Deol and Kocher 1958; 92, Durham et al.
1989; 93, Horner et al. 1985; 94, Pujol et al. 1983; 95, Steel and Bock 1980; 96, Steel and Bock 1984; 97,
Raynor and Mulroy 1997; 98, Eicher et al. 1976; 99, Lyon et al. 1986; 100, Meyer et al. 1998; 101, Popelka
et al. 1986; 102, Steel et al. 1989; 103, Strom et al. 1997; 104, Rüsch et al. 1998; 105, Campos Barros et al.
1998; 106, Forrest et al. 1996; 107, Rio et al. 1999.
