Table 1 Penetrance of Trooper pathology compared with Looper pathology.

From: An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Phenotype

Chd7 Trooper

Trooper WT

Chd7 Looper

Looper WT

Circling

4%

0%

83%

0%

(2/52)

(0/46)

(5/6)

(0/10)

Hearing impairment

100%

0%

100%

0%

(12/12)

(0/12)

(18/18)

(0/22)

Semicircular Canal malformation

100%

0%

100%

0%

(2/2)

(0/1)

(3/3)

(0/1)

Blepharoconjunctivitis

12%

0%

69%

0%

(6/52)

(0/46)

(11/16)

(0/19)

Post Weaning Survival (of total colony population)

53%

47%

41%

59%

(52/98)

(46/98)

(68/167)

(99/167)

  1. The Trooper phenotype is milder than previously reported Chd7 mouse mutants.