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Table 2 Mouse phenotypes for genes involved in the retinoic acid synthesis, degradation, and signaling

From: Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Gene

Synonyms

MGI identification number

Mouse knockout phenotypes (homozygous null mutations)

Adh1

 

87921

Impaired metabolism of (and sensitivity to) ethanol and retinol [105,106,107]

Adh7

ADH4

87926

Defective ethanol clearance and reduced metabolism of retinal to RA [105]

Aldh1a1

RALDH1

1353450

Increased energy dissipation, insulin resistance, diet-induced obesity resistance [108], significantly reduced ability to convert retinol to retinoic acid in the liver [109]

Aldh1a2

RALDH2

107928

Devoid of retinoic acid, die by E10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region [110,111,112,113,114]

Aldh1a3

RALDH3

1861722

Neonatal death [115], persistent hyperplastic primary vitreous, thick neural retina and no vitreum [28], choanal atresia, ethmoturbinal hypoplasia, ventral lens rotation, short ventral retina, and no Harderian gland [66]

Aldh1b1

ALDHX

1919785

Increased fasting circulating glucose levels and decreased blood acetaldehyde clearance [116], defects in beta cell development and functionality, glucose intolerance, age-dependent hyperglycemia, and insulin resistance [117]

Aldh8a1

ALDH12 or RALDH4

2653900

None Found

Cyp1b1

 

88590

Protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA [118], show a decreased incidence of DMBA-induced lymphomas [119], ocular drainage structure abnormalities (~ POAG) [120]

Cyp26a1

 

1096359

Mid-late gestation lethal and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain [121, 122], rescued by partial Aldh1a2 deletion [42]

Cyp26b1

 

2176159

Lethal immediately after birth exhibiting respiratory distress [123], limb morphogenesis and proximal-distal patterning is disrupted in homozygous null fetuses [123, 124], abnormal spermatogenesis/oogenesis [125], arrested hair follicle development [126]

Cyp26c1

 

2679699

Viable, exhibit normal CNS development with no apparent anatomical defects [127]

Crabp1

CRABP-I

88490

Phenotypically normal and fertile [128]

Crabp2

CRABP-II

 

Postaxial polydactyly [129]

Fabp5

 

101790

Impaired skin barrier function [130], resistance to diet-induced obesity (decreased adipose tissue and improved glucose tolerance) [131], and impaired cognitive function [132, 133]

Rara

NR1B1

97856

High neonatal mortality due to maternal cannibalization, failure to thrive, and excess mortality during the postnatal period, male survivors exhibit testicular degeneration [134,135,136]

Rarb

NR1B2

97857

Reduced growth [137], locomotion abnormalities [138]

Rarg

NR1B3

97858

Stunted growth, homeotic transformations of the rostral axial skeleton and tracheal cartilage, Harderian gland agenesis, high postnatal mortality, and male sterility [135, 139], splenomegaly, and myeloproliferative disease, abnormal granulocytes [140]

Rbp1

CRBPI

97876

Increased adiposity, increased PPAR-gamma target gene expression [141], increased Rpb2 and Crabp2, elevated pancreatic RA [142], increased susceptibility to a diet deficient in vitamin A [143]

Rbp2

CRBPII

97877

Pups of homozygous dams fed a marginal retinol diet show increased neonatal lethality due to inadequate retinal transport to the fetus, abnormal retinol level and vitamin absorption [144]

Rbp4

 

97879

Impaired retinal function in first month of life [145], insulin sensitivity [146]

Rdh5

 

1201412

Impaired dark adaptation and at high bleaching levels, large increase in 11-cis-retinyl ester concentration [147]

Rdh10

 

1924238

Mid-gestational lethality, reduced RA-signaling and abnormal limb, craniofacial, somite and cardiac morphology including microphthalmia [24] and dorsal pancreas agenesis [148]

Rxra

NR2B1

98214

Multiple organ defects and die of cardiac failure by E14.5, eye defects (retinal abnormalities, late corneal opacity), placental defects [149,150,151,152,153] .

Rxrb

NR2B2

98215

Partial embryonic and perinatal lethality, and surviving adult males are sterile due to defects in spermatogenesis [154]

Rxrg

NR2B3

98216

Neuron reduction in striatum, premature death and altered responses to the administration of dopamine antagonists [155]

Stra6

 

107742

Seven-fold reduction in total ocular retinoids, photoreceptor anomalies, abnormal RPE, sclera, and choroid [20]