Phenotypes associated with this allele

• Allele Symbol: Rarb^tm1Ipc
• Allele Name: targeted mutation 1, Pierre Chambon
• Allele ID: MGI:1857623
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rarb^tm1Ipc/Rarb^tm1Ipc	involves: 129S2/SvPas	MGI:3622911
hm2	Rarb^tm1Ipc/Rarb^tm1Ipc	involves: 129S2/SvPas * C57BL/6	MGI:3766088
cx3	Rara^tm2Ipc/Rara^tm2Ipc Rarb^tm1Ipc/Rarb^tm1Ipc	involves: 129S2/SvPas	MGI:3033862
cx4	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Ipc/Rarb^tm1Ipc	involves: 129S2/SvPas	MGI:2449447
cx5	Rara^tm1Ipc/Rara^+ Rarb^tm1Ipc/Rarb^+	involves: 129S2/SvPas	MGI:6382193
cx6	Rarb^tm1Ipc/Rarb^tm1Ipc Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas	MGI:3033895
cx7	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Ipc/Rarb^+	involves: 129S2/SvPas	MGI:3033851

Genotype
MGI:3622911

hm1

• Allelic Composition: Rarb^tm1Ipc/Rarb^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:21486 )

• appear normal with no defects in fertility, life span, internal organs, skeleton, or cartilage

Genotype
MGI:3766088

hm2

• Allelic Composition: Rarb^tm1Ipc/Rarb^tm1Ipc
• Genetic Background: involves: 129S2/SvPas * C57BL/6

vision/eye

persistent hyperplastic primary vitreous ( J:43344 )

• 68% of mutants exhibit persistent hyperplastic primary vitreous

Genotype
MGI:3033862

cx3

• Allelic Composition: Rara^tm2Ipc/Rara^tm2Ipc; Rarb^tm1Ipc/Rarb^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

mortality/aging

neonatal lethality, complete penetrance ( J:21034 , J:21009 )

• these double homozygous mutants exhibit many of the defects characteristic of fetal vitamin A deficiency (J:21034)

• mice delivered by Cesarean survive less than 12 hours (J:21009)

reproductive system

abnormal female reproductive system morphology ( J:21034 )

♀ • the body of the uterus and cranial vagina that are derived from the paramesonephric ducts are absent at E18.5 (2 out of 2).

absent uterus ( J:21034 )

♀ • the body of the uterus is absent at E18.5; however, the uterine horns are uni- or bilaterally present

absent cranial vagina ( J:21034 )

♀ • the cranial vagina is absent at E18.5

skeleton

abnormal skeleton morphology ( J:21034 )

• the thyroid cartilage was partially fused to the hyoid bone (4 out of 10)

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

abnormal thyroid cartilage morphology ( J:21034 )

• the thyroid cartilage was partially fused to the hyoid bone

abnormal tracheal cartilage morphology ( J:21034 )

• the tracheal cartilage was mildly malformed (10 out of 10)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)

ectopic cartilage ( J:21034 )

• ectopic cartilage is found at either the base of the heart semilunar cusps, in the diaphragm, or in the peritoneum (2 out of 3).

cardiovascular system

abnormal cardiovascular system morphology ( J:21034 )

• abnormalities of the heart and abnormalities of the great vessels related to aortic arch patterning defects similar to those seen in offspring of vitamin A deficient rats were seen in these mice at E18.5

persistent right dorsal aorta ( J:21034 )

• the right dorsal aortic root which is normally lost persists (2 out of 3)

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the left 4th aortic arch is which normally persists is lost (2 out of 3)

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)

perimembraneous ventricular septal defect ( J:21034 )

• defects are found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (2 out of 3)

vision/eye

persistent hyperplastic primary vitreous ( J:21009 )

• fibrous retrolenticular membrane in 4 of 6 mice

embryo

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the left 4th aortic arch is which normally persists is lost (2 out of 3)

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)

rudimentary Mullerian ducts ( J:21034 )

• the caudal paramesonephric ducts are absent in females at E13.5 (2 out of 2).

• this likely results in the loss of the body of the uterus and the cranial vagina which are derived from the paramesonephric ducts

endocrine/exocrine glands

ectopic parathyroid gland ( J:21034 )

• the parathyroid glands were rostrally displaced and not associated with the thyroid gland

renal/urinary system

renal glomerulus hypertrophy ( J:21034 )

• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys

absent nephrogenic zone ( J:21034 )

• the nephrogenic zone of the cortex is absent in hypoplastic kidneys

hydronephrosis ( J:21034 )

• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred

renal hypoplasia ( J:21034 )

• when examined at E18.5 the kidneys are smaller than normal due to bilateral hypoplasia however division of the kidney into cortical and medullary regions is still present.

• these defects are not as severe as those found in Rar double homozygous mutants in which expression of both the alpha1 and alpha2 subunits is disrupted. (2 out of 3)

abnormal renal tubule morphology ( J:21034 )

• abnormally large convoluted tubules are also found in the cortical region of these hypoplastic kidneys

ectopic kidney ( J:21034 )

• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site

abnormal ureter morphology ( J:21034 )

• all mice exhibiting hydronephrosis and hydroureter had either ectopically terminating ureters that opened into the urethra or agenesis of the caudal ureter such that the ureter failed to join any part of the lower genitor-urinary tract. (2 out of 3)

ectopic ureter ( J:21034 )

• mice exhibiting hydronephrosis and hydroureter may show ectopically terminating ureters that open into the urethra

hydroureter ( J:21034 )

• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in the cartilages that make up the skeleton of the trachea and the larynx are found at E18.5.

• these defects are milder than those found in Rar double homozygous mutants (alpha beta2) in which expression of both the alpha1 and alpha2 subunits is disrupted.

abnormal thyroid cartilage morphology ( J:21034 )

• the thyroid cartilage was partially fused to the hyoid bone

abnormal tracheal cartilage morphology ( J:21034 )

• the tracheal cartilage was mildly malformed (10 out of 10)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)

hearing/vestibular/ear

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

craniofacial

craniofacial phenotype ( J:21009 )

N • mice exhibit normal craniofacial skeleton at E18.5

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the left 4th aortic arch is which normally persists is lost (2 out of 3)

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

Genotype
MGI:2449447

cx4

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarb^tm1Ipc/Rarb^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

mortality/aging

neonatal lethality, complete penetrance ( J:21034 , J:21009 )

• these double homozygous mutants exhibit many of the defects characteristic of fetal vitamin A deficiency (J:21034)

• mice delivered by Cesarean survive less than an hour (J:21009)

reproductive system

abnormal female reproductive system morphology ( J:21034 )

♀ • at E18.5 the uterine tubes, uterus and the cranial vagina that are all derived from the paramesonephric ducts are absent due to the absence of these ducts (6 out of 6)

absent oviduct ( J:21034 )

♀ • absent uterine tubes at E18.5

absent uterus ( J:21034 )

♀ • at E18.5

absent cranial vagina ( J:21034 )

♀ • at E18.5

skeleton

abnormal skeleton morphology ( J:21009 )

• in all mice

abnormal occipital bone morphology ( J:21009 )

• basioccipital exoccipital fusion in 7 of 10 mice

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

abnormal cricoid cartilage morphology ( J:21034 )

• the shape of the cricoid cartilage is unrecognizable (10 out of 10)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)

abnormal thyroid cartilage morphology ( J:21034 )

• the rostral horn of the thyroid cartilage is fused to the greater horn of the hyoid bone (10 out of 10)

abnormal tracheal cartilage morphology ( J:21034 )

• the bifurcation of the tracheal cartilage is premature in these mice (10 out of 10)

abnormal cervical vertebrae morphology ( J:21009 )

• fusion of cervical neural arches in 4 of 10 mice

• dyssymphysis of cervical neural arches in 4 of 10 mice

abnormal cervical atlas morphology ( J:21009 )

• in 8 of 10 mice

fusion of atlas and occipital bones ( J:21009 )

• C2 to C1 in 2 of 10 mice

• C6 to C5 in 8 of 10 mice

• C7 to C6 in 8 of 10 mice

abnormal cervical axis morphology ( J:21009 )

• in 7 of 10 mice

cardiovascular system

persistent right dorsal aorta ( J:21034 )

• at E18.5 the right dorsal aortic root which is normally lost persists (6 out of 7)

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)

abnormal pulmonary artery morphology ( J:21034 )

• at E18.5, the left pulmonary artery is absent; this defect is associated with the absence of the left lung (6 out of 7)

absent fetal ductus arteriosus ( J:21034 )

• the normal fetal connection between the aorta and the main pulmonary artery (ductus arteriosus) is also absent in mice with persistent truncus arteriosus and is thought to be secondary to this condition

persistent truncus arteriosus ( J:21034 )

• this defect is detected at E18.5 in 100% of double mutants

abnormal interventricular septum membranous part morphology ( J:21034 )

• in mice with persistent truncus arteriosus defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (7 out of 7)

abnormal aortic valve cusp morphology ( J:21034 )

• associated with the defect in aortic morphology the aortic valve has 4 cusps (7 out of 7)

vision/eye

persistent hyperplastic primary vitreous ( J:21009 )

• fibrous retrolenticular membrane in 14 of 14 mice

digestive/alimentary system

absent anal canal ( J:21034 )

• agenesis of the anal canal with the rectum being separated from the skin by a thick layer of mesenchyme was seen at E18.5 (5 out of 7)

abnormal esophageal epithelium morphology ( J:21034 )

• at E11.5 and E18.5 the epithelium of the esophagotracheal tube and the caudal esophagus is of the columnar ciliated type (7 out of 7)

tracheoesophageal fistula ( J:21034 )

• at E11.5 the tube that will become the esophagus and trachea fails to divide resulting in the absence of the esophagotracheal septum (7 out of 7)

• the epithelium of the esophagotracheal tube is columnar ciliated cells like those normally found in the trachea (7 out of 7)

abnormal stomach epithelium morphology ( J:21034 )

• at E18.5 the epithelium of the cardiac and preventricular portions of the stomach is of the columnar ciliated type (7 out of 7)

embryo

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)

absent Mullerian ducts ( J:21034 )

• the paramesonephric ducts are absent despite the presence of normal Wolffian ducts resulting in the loss of the uterine tubes, uterus and the cranial vagina which are all derived from the paramesonephric ducts

endocrine/exocrine glands

ectopic parathyroid gland ( J:21034 )

• at E18.5 the parathyroid glands were rostrally displaced and not associated with the thyroid gland

persistent cervical thymus ( J:21034 )

• at E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)

immune system

persistent cervical thymus ( J:21034 )

• at E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)

renal/urinary system

renal glomerulus hypertrophy ( J:21034 )

• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys

abnormal kidney development ( J:52599 )

• at E14, the subcapsular region appears histologically abnormal, as a dense ring of mesenchymal cells lacking ureteric bud ends

• at E12, the distribution of stromal cells in the subcapsular region is abnormal forming a thick peripheral layer devoid of ureteric bud ends

• however, metanephric mesenchymal cell survival and differentiation appear normal

abnormal nephrogenic mesenchyme morphogenesis ( J:52599 )

• nephrogenic mesenchymal cells and ureteric bud ends are localized inside the peripheral layer of putative stromal cells, rather than in their normal position below the renal capsule

absent nephrogenic zone ( J:21034 )

• the nephrogenic zone of the cortex is absent

hydronephrosis ( J:21034 )

• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred (7 out of 10)

small kidney ( J:52599 )

• at E14, mutant embryonic kidneys are much smaller than wild-type

renal hypoplasia ( J:21034 )

• at E18.5 the kidneys are smaller than normal due to bilateral hypoplasia; however, division of the kidney into cortical and medullary regions is still present (10 out of 10)

decreased nephron number ( J:52599 )

• nephron formation is reduced

abnormal renal tubule morphology ( J:21034 )

• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys

ectopic kidney ( J:21034 )

• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site

abnormal ureter morphology ( J:21034 )

• all mice exhibiting hydronephrosis and hydroureter had either ectopically terminating ureters that opened into the urethra (5 out of 10) or agenesis of the caudal ureter such that the ureter failed to join any part of the lower genitor-urinary tract (6 out of 10)

ectopic ureter ( J:21034 )

• 5 of 10 mice exhibiting hydronephrosis and hydroureter showed ectopically terminating ureters that opened into the urethra

hydroureter ( J:21034 )

• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred (7 out of 10)

impaired branching involved in ureteric bud morphogenesis ( J:52599 )

• at E14, the number of ureteric bud tips is reduced ~4-fold relative to that in wild-type embryos; only 4-5 generations of branches are observed versus 8-9 in wild-type embryos

• impaired ureteric bud branching is likely due to loss of Ret (c-ret) expression in the ureteric bud tips, evident by E12

ectopic ureteric bud ( J:52599 )

• at E14, ureteric bud ends are abnormally located in a recessed position away from the subcapsular region

hearing/vestibular/ear

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5

tracheoesophageal fistula ( J:21034 )

• at E11.5 the tube that will become the esophagus and trachea fails to divide resulting in the absence of the esophagotracheal septum (7 out of 7)

• the epithelium of the esophagotracheal tube is columnar ciliated cells like those normally found in the trachea (7 out of 7)

abnormal cricoid cartilage morphology ( J:21034 )

• the shape of the cricoid cartilage is unrecognizable (10 out of 10)

abnormal thyroid cartilage morphology ( J:21034 )

• the rostral horn of the thyroid cartilage is fused to the greater horn of the hyoid bone (10 out of 10)

abnormal left lung morphology ( J:21034 )

• the left lung is absent (6 out of 7) or hypoplastic (1 out of 7)

• examination at E11.5 revealed that the left lung bud is also absent

abnormal left major bronchus morphology ( J:21034 )

• the left stem bronchus is nearly absent at E11.5

abnormal right major bronchus morphology ( J:21034 )

• at E11.5 and E12.5 branching of the right stem bronchus is delayed approximately 24 hours and appears to be the cause the hypoplasia of the right lung

abnormal right lung morphology ( J:21034 )

• the right lung is hypoplastic (7 out of 7)

abnormal right lung accessory lobe morphology ( J:21034 )

• the right lung fails to cross the midline because of hypoplasia in the accessory lobe of the right lung

abnormal tracheal cartilage morphology ( J:21034 )

• the bifurcation of the tracheal cartilage is premature in these mice (10 out of 10)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)

hematopoietic system

persistent cervical thymus ( J:21034 )

• at E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)

craniofacial

craniofacial phenotype ( J:21009 )

N • mice exhibit normal craniofacial skeleton at E18.5

abnormal sixth pharyngeal arch artery morphology ( J:21034 )

• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)

abnormal occipital bone morphology ( J:21009 )

• basioccipital exoccipital fusion in 7 of 10 mice

fusion of atlas and occipital bones ( J:21009 )

• C2 to C1 in 2 of 10 mice

• C6 to C5 in 8 of 10 mice

• C7 to C6 in 8 of 10 mice

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

Genotype
MGI:6382193

cx5

• Allelic Composition: Rara^tm1Ipc/Rara⁺; Rarb^tm1Ipc/Rarb⁺
• Genetic Background: involves: 129S2/SvPas

craniofacial

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

endocrine/exocrine glands

abnormal Harderian gland development ( J:21009 )

• however, the stroma is present

• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5

hearing/vestibular/ear

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

limbs/digits/tail

short fibula ( J:21009 )

• severe in one mouse, milder in two mice

skeleton

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

short fibula ( J:21009 )

• severe in one mouse, milder in two mice

vision/eye

absent nasolacrimal duct ( J:21009 )

• in all mice

Genotype
MGI:3033895

cx6

• Allelic Composition: Rarb^tm1Ipc/Rarb^tm1Ipc; Rarg^tm1Ipc/Rarg^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

mortality/aging

perinatal lethality ( J:21034 )

neonatal lethality, complete penetrance ( J:21009 )

• mice delivered by Cesarean survive less than 12 hours

craniofacial

craniofacial phenotype ( J:21009 )

N • mice exhibit normal craniofacial skeleton at E18.5

fusion of atlas and occipital bones ( J:21009 )

• in 2 of 9 mice

respiratory system

fused bronchial cartilage rings ( J:21034 )

• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused

abnormal tracheal cartilage morphology ( J:21034 )

• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)

digestive/alimentary system

short sublingual duct ( J:21009 )

• with the sublingual caruncle always present

endocrine/exocrine glands

short sublingual duct ( J:21009 )

• with the sublingual caruncle always present

abnormal lacrimal gland development ( J:21009 )

• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5

abnormal Harderian gland development ( J:21009 )

• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5

• however, the stroma is present

skeleton

abnormal skeleton morphology ( J:21009 )

• in 7 of 9 mice

abnormal tracheal cartilage morphology ( J:21034 )

• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)

abnormal cervical vertebrae morphology ( J:21009 )

abnormal cervical atlas morphology ( J:21009 )

• in 5 of 9 mice

fusion of atlas and occipital bones ( J:21009 )

• in 2 of 9 mice

abnormal cervical axis morphology ( J:21009 )

• in 5 of 9 mice

cervical vertebral transformation ( J:21009 )

• C2 to C1 in 2 of 9 mice

• C6 to C5 in 1 of 9 mice

nervous system

optic nerve coloboma ( J:21009 )

• in all mice, chondrified

vision/eye

abnormal lacrimal gland development ( J:21009 )

• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5

optic nerve coloboma ( J:21009 )

• in all mice, chondrified

abnormal conjunctival sac morphology ( J:21009 )

• small in all mice

abnormal cornea stroma morphology ( J:21009 )

• in all mice

absent eye anterior chamber ( J:21009 )

• in all mice

persistent hyperplastic primary vitreous ( J:21009 )

• in all mice

retina coloboma ( J:21009 )

• in 1 of 6 mice

absent nasolacrimal duct ( J:21009 )

• in some mice

Genotype
MGI:3033851

cx7

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarb^tm1Ipc/Rarb⁺
• Genetic Background: involves: 129S2/SvPas

cardiovascular system

persistent right dorsal aorta ( J:21034 )

• at E18.5 the right dorsal aortic root which is normally lost persists (2 out of 3)

absent fetal ductus arteriosus ( J:21034 )

• the normal fetal connection between the aorta and the main pulmonary artery (ductus arteriosus) is also absent in mice with persistent truncus arteriosus and is thought to be secondary to this condition

persistent truncus arteriosus ( J:21034 )

• this defect was detected in 2 of 4 mutants at E18.5

perimembraneous ventricular septal defect ( J:21034 )

• in mice with persistent truncus arteriosus defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum at E18.5 (3 out of 4)

renal/urinary system

renal glomerulus hypertrophy ( J:21034 )

• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys

absent nephrogenic zone ( J:21034 )

• the nephrogenic zone of the cortex is absent in hypoplastic kidneys

renal hypoplasia ( J:21034 )

• kidneys are smaller than normal due to bilateral hypoplasia; however, division of the kidney into cortical and medullary regions is still present at E18.5 (3 out of 4)

• kidney hypoplasia is less severe than in double homozygous mice

abnormal renal tubule morphology ( J:21034 )

• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys

ectopic kidney ( J:21034 )

• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5.

• the morphology of the cartilages that make up the larynx and trachea were not examined in these mice

pulmonary hypoplasia ( J:21034 )

• the right and left lungs are hypoplastic (2 out of 4)

• unlike in double homozygous mice the left lung is present but hypoplastic