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Table 1 Phenotype summary of heterozygous Crx mutant mice

From: Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies

Mousea

Mutation classb

CRX expressionc

Rod

Cone

Disease model

Phenotype severitye

Functiond

Degeneration

Functiond

Degeneration

WT

NA

+

++++

Undetectable

++++

Undetectable

NA

NA

R90W

I

+

++++

Undetectable

++++

Undetectable

CoRD

Mild

E168d2neo

III

+

+++

Undetectable

++

≥1 year

CoRD

Moderate

E168d2

III

++

++

1–6 months

+

1 month

LCA

Severe

Rip

IV

+

-

1–18 months

-

Undetectable

LCA

Very severe

  1. a Heterozygous mice harboring the indicated Crx mutations [21, 24] are used for phenotype comparisons
  2. b Classification described by [14]
  3. c Grading based on quantitative western blots [21]. Note a twofold increase in E168d2 but normal level in others
  4. d Grading based on reduction of electroretinography (ERG) peak amplitudes [21]. Dashes indicate undetected ERG signals
  5. e Severity based on combined morphological and functional deficits
  6. WT C57BL/6 J wild-type control, NA not applicable