Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tmem163Tg(ACTB-cre)2Mrt transgene insertion 2, Gail R Martin MGI:2176050 |
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| Summary |
50 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• while present at E8.0, no mice are detected at E8.5 and beyond
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• at E8.0
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• at E8.0
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal cardiac morphology and fractional shortening
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• narrowing diameter of the ascending aorta
• increased aortic valve peak velocity
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the chondrocyte columns are disorganized and premature differentiation to the hypertrophic state occurs
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• decreased in size
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• the chondrocyte columns are disorganized
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• premature and inappropriate ossification throughout the endochondral skeleton
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• shortening of the mandible results in protrusion of the tongue
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• narrow thorax
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• shortening of the mandible results in protrusion of the tongue
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• shortening of the mandible results in protrusion of the tongue
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cholinergic striatal interneurons are dramatically reduced in the striatum and this is associated with an increase in Lhx6 expressing striatal interneurons
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• cholinergic striatal interneurons are dramatically reduced in the striatum and this is associated with an increase in Lhx6 expressing striatal interneurons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the neural tube and brain fail to fuse dorsally unlike in wild-type mice
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• mice exhibit disorganized somites compared with wild-type mice
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• mice exhibit small somites compared with wild-type mice
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• the neural tube and brain fail to fuse dorsally unlike in wild-type mice
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• development anterior to the midbrain is arrested
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• mice lack sclerotome compared with wild-type mice
• however, cell death and proliferation is normal
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• mice exhibit abnormal head development compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E8.5 and E9.5, mice exhibit buckled neural tubes that frequently fail to close anteriorly unlike in wild-type mice
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• anteriorly in some mice
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• at E8.5 and E9.5, mice exhibit buckled neural tubes that frequently fail to close anteriorly unlike in wild-type mice
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• anteriorly in some mice
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• at E8.5 and E9.5, mice exhibit small posterior somites compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show a similar level of activity at the outset of the task as controls, but the level of activity appears to wane more slowly, indicating a possible deficit in habituation to novel environments
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• mice take a longer time to locate the hidden platform in the Morris water maze task and travel farther during the acquisition phase than controls
• during the reversal phase of the hidden platform test, mice never meet the criterion for learning across the entire regimen, and they travel farther than controls
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• mice spend more time in the center region of the novel open field during the last 20 min of the trial, indicating reduced anxiety
• in the elevated plus maze task, mice spend more time in the open arms and make more entries into the open arm than closed arm, indicating reduced anxiety
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• mice exhibit a reduced startle to a 74 dB stimulus at both 12 and 19 weeks of age
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• mice exhibit increased activity and total distance traveled in the open field task
• however, mice exhibit normal motor coordination in the accelerating rotarod and normal sociability in the three-chamber task
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• NMDA/AMPA current ratio is enhanced and because AMPA receptor-mediated synaptic transmission appears intact, this suggests that NMDAR-mediated currents are selectively enhanced
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• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies
• however, no differences are seen in long term depression (LTD) after 15 min of 1 Hz stimulation, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal
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• percentage prepulse inhibition is decreased in 19 week old mice but not 12-week old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:254983 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit thickened ribs compared with wild-type mice
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• mice exhibit thickened vertebrae to approximately the anterior-posterior level of the twelfth to fifteenth vertebra compared with wild-type mice
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• mice exhibit reduced or absent axial cartilage compared with wild-type mice
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• mice exhibit thickened cervical and thoracic skeletal elements and reduced lumbar cartilage compared with wild-type mice
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• mice exhibit dysmorphic condensation at the level of the hind limb compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E12.5, mice display an expansion of the cortical hem and a reduction in dorsal telencephalon
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• at E12.5, mice display an expansion of the cortical hem and a reduction in dorsal telencephalon
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• marginally fewer than expected mice are present at 3 weeks
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• the area of columnar proliferating chondrocytes is larger than in wild-type mice
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• prehypertrophic and hypertrophic zones are reduced in size compared to in wild-type mice
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• in 2 of 30 mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• male mutants are present at Mendelian ratios at E7.5 and 10.5, but no viable embryos are recovered after E12.5
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• embryos between E7.5 and 10.5 exhibit severe growth retardation
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• embryos between E7.5 and 10.5 exhibit severe growth retardation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype duplicates that of global null mice
• fusion of the glenoid cavity of the scapula to the humeral head
• partial duplication of the head
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• detached
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• fusion of the glenoid cavity to the humeral head
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• thin and hypoplastic
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• phenotype duplicates that of global null mice
• truncated, dysmorphic, and occasionally fused ribs
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• occasional
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• truncated
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• phenotype duplicates that of global null mice
• fusion of the glenoid cavity of the scapula to the humeral head
• partial duplication of the head
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• detached
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a percentage of female heterozygotes die during development; female mutants are born at a lower than expected frequency
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• females surviving through birth are smaller in size than wild-type littermates but appear healthy and fertile
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype is stated to be identical to that of conditional mutants with a Pthlhtm1Hmk allele in place of the Pthlhtm1.1Ack allele; however no data is presented in J:69396
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• shortening of the mandible results in protrusion of the tongue
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• narrow thorax
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• shortening of the mandible results in protrusion of the tongue
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• shortening of the mandible results in protrusion of the tongue
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 35% of lens in adult mice have neo-vascularization with first signs of blood vessel development visible by the first week of age
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• 35% of lens in adult mice have neo-vascularization with first signs of blood vessel development visible by the first week of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 80% of lens in adult mice have neo-vascularization with first signs of blood vessel development visible in the stroma of the cornea by the first week of age
• electron microscopy reveals that capillaries are present at birth
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• absence of the anterior chamber occurs in some mice by one week of age
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• folding of the retina occurs in some mice
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• the vitreous body is absent in some mice by one week of age
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• 80% of lens in adult mice have neo-vascularization with first signs of blood vessel development visible in the stroma of the cornea by the first week of age
• electron microscopy reveals that capillaries are present at birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: when backcrossed to a C57BL/6N background
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• fewer than expected found at weaning, with loss occurring between P0.5 and weaning when the recombined allele is inherited paternally
• Background Sensitivity: survival is reduced when backcrossed into the C57BL/6N background to about 5%
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• vast majority of embryos are dead by E12.5 when the recombined allele is maternally inherited
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• at E8.5 and E10.5 when the recombined allele is maternally inherited
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• increase in maternal blood near the trophoblast giant cell layer when the allele is maternally inherited
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• over-representation of larger than normal placental trophoblast giant cells at E10.5-E11.5 when the recombined allele is maternally inherited
• trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited
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• trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited
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• at E12.5 appear to have more blood relative to controls when the recombined allele is maternally inherited
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• thinner in placental midpoint sections when the recombined allele is maternally inherited
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• clefting in 32% (7 of 22) of late gestation females
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• occasional
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• occasional
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• 55% (23 of 42) of surviving mice have lens opacification
• 8 of 23 with cataracts have bilateral catacts
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• average width is reduced by about 0.2 mm compared to controls
• pronounced bilateral asymmetry of globe width
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• eyelids often appear ptotic and/or swollen
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• all survivors have kinked tails
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• clefting in 32% (7 of 22) of late gestation females
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• clefting in 32% (7 of 22) of late gestation females
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• occasional
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• occasional
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• at E8.5 and E10.5 when the recombined allele is maternally inherited
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| syndromic microphthalmia 2 | DOID:0111809 |
OMIM:300166 |
J:296645 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die between E7.5 and E9.5
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• about a half to full day developmental delay at E7.5-E8.5
• in stage matched embryos at the 8-9 somite stage abnormalities are most obvious in the trunk and brain
• in stage matched embryos at the 8-9 somite stage the trunk is shorter and cardiac tissue is not prominent
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• about a half to full day developmental delay at E7.5-E8.5
• in stage matched embryos at the 8-9 somite stage abnormalities are most obvious in the trunk and brain
• in stage matched embryos at the 8-9 somite stage the trunk is shorter and cardiac tissue is not prominent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos die between E10.5 and E14.5 with all dead by E14.5
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• short and misshapen
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• short and misshapen
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• misshapen by E12.5
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• small and misshapen by E13.5
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• appears bulbous
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• short and misshapen
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• short and misshapen
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• short and misshapen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are indistinguishable from wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• caudal regions of the neural tube remain open but in 96 of 98 embryos the forebrain is closed
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• at E12.5, E13.5, and E14.5, almost all choroid plexus epithelium is absent including that in the telencephalon
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• gross forebrain abnormalities are seen at E10.5
• apoptosis is elevated in anterior levels of the dorsal midline region of the forebrain at E9.5 but at or below control levels by E10.0
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• caudal regions of the neural tube remain open but in 96 of 98 embryos the forebrain is closed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice that survive the embryonic period die between 3 and 7 weeks of age
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• surviving mice are runted
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| D-2-hydroxyglutaric aciduria | DOID:0050575 |
OMIM:PS600721 |
J:209629 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some spermatocytes exhibit desynapsis at diplotene due to defective crossover formation during pachytene
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• during anaphase, a few chromatin masses migrate ahead or lag behind the two major chromatin masses unlike in wild-type spermatocytes
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• sperm cells undergo increased apoptosis compared to in wild-type mice during pachytene and anaphase I
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• testes weight is 50% of wild-type
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• testes weight is 50% of wild-type
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• some spermatocytes exhibit desynapsis at diplotene due to defective crossover formation during pachytene
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• during anaphase, a few chromatin masses migrate ahead or lag behind the two major chromatin masses unlike in wild-type spermatocytes
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• sperm cells undergo increased apoptosis compared to in wild-type mice during pachytene and anaphase I
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pachytene oocytes contain asynapsed chromosomes unlike in wild-type mice
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• pachytene oocytes contain asynapsed chromosomes unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the developing head region at E9.5
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• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos
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• in the developing head region at E9.5
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• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heart rate is slower by 6-10% at P5 and P8
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• mice are less averse to open, brightly lit spaces compared with wild-type mice
• female mice exhibit decreased anxiety-related behaviors in open field, zero-maze, and light-dark tests compared with wild-type mice
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• pups are smaller than controls by 15-21% at P5 and P8
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• 5HT+ axon varicosities are enlarged compared to in wild-type mice
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• oxygen consumption is slightly but significantly lower at P5 and higher at P12
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• autoresuscitation is less effective compared to controls following repeated episodic exposure to anoxia and results in increased mortality at P5 and P8, with only 16% of pups surviving to the endpoint at P12; deaths occur during the anoxic challenge
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• tidal volume is increased by 18-34% at P8 and P12
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• increase in baseline breathing variability at P5
• autoresuscitation is less effective compared to controls following repeated episodic exposure to anoxia and results in increased mortality at P5 and P8, with only 16% of pups surviving to the endpoint at P12
• pups exposed to anoxia that die at P5 take 4 times longer to initiate gasping and 4 times longer to recover heart rate and eupneic breathing to 90% of baseline
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• 28% larger minute ventilation at P12
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| sudden infant death syndrome | DOID:9007 |
OMIM:272120 |
J:231745 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• double heterozygotes are recovered at normal Mendelian ratios at E14.5
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• at E14.5, 21% of double heterozygotes exhibit an aberrant right subclavian artery
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• at E14.5, 57% of double heterozygotes show OFT rotational defects, including DORV and overriding aorta
• however, no common arterial trunk is identified at E14.5
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• at E14.5, 86% of double heterozygotes exhibit a perimembranous VSD
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ovaries from 4-, 6-, and 12-week old females weigh 18-23% less than those of control females
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• oviducts from 4-, 6-, and 12-week old females weigh 18-23% less than those of control females
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• uterI from 4-, 6-, and 12-week old females weigh 18-23% less than in control females
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• litters from homozygous females are have fewer pups compared to those of control females
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• some mutant females display reluctant nursing behavior
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• thymus in female mice is larger than in control females
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• mammary glands in 4-, 6-, and 12-week old females weigh 18-23% less than in control female littermates
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• by fourth to sixth weeks of age, ductal system has 30-50% less extension with reduced numbers of terminal end buds than in control females
• at maturity (8, 16 and 20 weeks) mammary glands are filled with large bloated ducts terminating with bloated ends; glands have fewer secondary and tertiary ductal branches compared to controls; during pregnancy, retarded ductal branches are partially restored, but mutant mammary glands still have less milk-producing alveoli than control glands
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• ovaries from 4-, 6-, and 12-week old females weigh 18-23% less than those of control females
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• retardation of mammary gland development may affect capacity of females to provide milk for their offspring
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• thymus in female mice is larger than in control females
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• thymus in female mice is larger than in control females
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• mammary glands in 4-, 6-, and 12-week old females weigh 18-23% less than in control female littermates
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• by fourth to sixth weeks of age, ductal system has 30-50% less extension with reduced numbers of terminal end buds than in control females
• at maturity (8, 16 and 20 weeks) mammary glands are filled with large bloated ducts terminating with bloated ends; glands have fewer secondary and tertiary ductal branches compared to controls; during pregnancy, retarded ductal branches are partially restored, but mutant mammary glands still have less milk-producing alveoli than control glands
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• retardation of mammary gland development may affect capacity of females to provide milk for their offspring
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• litters from heterozygous females have fewer pups compared to those of control females
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• germ cell hypoplasia is observed
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• spermatogonia are hypoplastic
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• germ cell development stops at pachytene spermatocyte stage of the first meiosis division
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• at 5 and 8 weeks, males have female-like appearance and body weights (18.8 grams and 20.1 grams) similar to females, and much lower than wild-type males (24.3 grams and 26.7 grams, respectively)
(J:81789)
• mutants display significantly lower body weights than wild-type males at time-points up to 20 weeks
(J:98775)
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• at 20 weeks, mutant and wild-type males show similar body weights, but from this point through 40 weeks, mutants gain weight faster than wild-type males
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• greater than in wild-type controls
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• size and number of adipocytes start to be different from wild-type at 5 weeks, becoming more so by 8 weeks
(J:81789)
• adipocytes are larger than in male controls at 35 weeks
(J:98775)
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• significantly enlarged relative to wild-type male and female controls at 35 weeks
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• perirenal fat pad is significantly enlarged relative to wild-type male and female controls at 35 weeks
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• skeletal muscle content is increased by 2.6-fold relative to wild-type
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• agenesis in mutant males
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• agenesis in mutant males
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• no lumen is observed
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• Sertoli cells show fibrillary degeneration; many pyknotic cells in seminiferous tubules contain apoptotic bodies
(J:81789)
• some cells display apoptotic-like bodies
(J:118270)
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• tubules show reduced diameters
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• some apoptotic-like bodies are observed in some seminiferous tubules
• some tubules show degeneration
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• Leydig cells in interstitial space are hypertrophic
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• size is 7% of wild-type males
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• testes are hypocellular compared to wild-type males
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• testis are located in low abdominal area close to internal inguinal ring
(J:81789)
• testes are cryptorchid in low abdominal area, close to inguinal ring
(J:118270)
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• elevated blood glucose is observed at 20 weeks of age, persisting to at least 35 weeks under fasting and fed conditions
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• levels are lower than in wild-type males
(J:81789)
• markedly lower than in wild-type males
(J:98775)
• significantly decreased relative to wild-type males
(J:118270)
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• levels are increased by 60% in fasting state and by 67% in fed state
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• in fed state, serum leptin concentrations are elevated at 25 and 35 weeks
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• skeletal muscle and hepatic triglyceride content are increased by 2.6- and 1.9 fold respectively relative to wild-type
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• observed with oral bolus glucose tolerance test; blood glucose is elevated throughout test and mice remain hyperglycemic 2 hours after glucose administration
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• at 25 and 35 weeks of age, mice are resistant to hypoglycemic effects of exogenous insuling
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• hepatic triglyceride content is increased by 1.9 fold relative to wild-type
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• skeletal muscle content is increased by 2.6-fold relative to wild-type
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• mutants display leptin resistance at 35 weeks; treatment with exogenous leptin does not decrease eating behavior as seen in wild-type controls
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• germ cell hypoplasia is observed
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• spermatogonia are hypoplastic
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• in 5-week old males, mean distance is 0.55 cm, similar to females and shorter than in wild-type males (1.05 cm); at 8 weeks, distance is 0.59 cm compared to 1.12 cm in wild-type male littermates
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• agenesis in mutant males
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• agenesis in mutant males
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• no lumen is observed
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• Sertoli cells show fibrillary degeneration; many pyknotic cells in seminiferous tubules contain apoptotic bodies
(J:81789)
• some cells display apoptotic-like bodies
(J:118270)
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• tubules show reduced diameters
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• some apoptotic-like bodies are observed in some seminiferous tubules
• some tubules show degeneration
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• Leydig cells in interstitial space are hypertrophic
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• size is 7% of wild-type males
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• testes are hypocellular compared to wild-type males
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• testis are located in low abdominal area close to internal inguinal ring
(J:81789)
• testes are cryptorchid in low abdominal area, close to inguinal ring
(J:118270)
|
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• appears to be arrested at pachytene stage; no round or elongated spermatids or mature spermatozoa are found in seminiferous tubules, while pachytene-stage spermatocytes are only occasionally found
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• germ cell development stops at pachytene spermatocyte stage of the first meiosis division
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• external male genitalia are feminized or absent
• however, female reproductive organs like the vagina, fallopian tubes, or uterus are not observed in male mutants
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• penis seems microphallic
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• poorly developed, resembles labia majora in females
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• external male genitalia may be absent
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• agenesis in mutant males
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• agenesis in mutant males
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• numbers in femoral metaphyses are higher than wild-type
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• femora and tibiae metaphyses readily show decreased bone volumes
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• cancellous bone volumes are lower than in female and wild-type male littermates
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• mean values for mineral apposition and bone formation rates in femoral metaphyses are higher than in wild-type controls
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• penis seems microphallic
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• urethra shows hypospadia
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• numbers in femoral metaphyses are higher than wild-type
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• numbers in femoral metaphyses are higher than wild-type
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• in 5-week old males, mean distance is 0.55 cm, similar to females and shorter than in wild-type males (1.05 cm); at 8 weeks, distance is 0.59 cm compared to 1.12 cm in wild-type male littermates
|
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• hepatic triglyceride content is increased by 1.9 fold relative to wild-type
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 10% of embryos exhibit exencephaly
• Background Sensitivity: phenotype is background-dependent, as mutants on C57BL/6J;CD-1 background do not display exencephaly
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 80% of embryos exhibit exencephaly
• Background Sensitivity: phenotype is background-dependent, as mutants on C57BL/6J;CD-1 background do not display exencephaly
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• size of the sympathetic ganglia (stellate ganglia) is larger at E13.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 10% of wild-type at 3 months of age
|
|
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• 10% of wild-type at 3 months of age
|
|
|
• ovaries have fewer interstitial compartments and greater number of atretic follicles compared to in wild-type mice
|
|
|
• granulosa cell thickness in antral follicles is decreased compared to in wild-type mice
|
|
|
• folliculogenesis only progresses into the antral stage
|
|
|
• mice exhibit large dilated, hemorrhagic cysts unlike wild-type mice
|
|
|
• the myometrium and lamina propria exhibit decreased numbers of stromal cells compared to in wild-type mice
|
|
|
• mice exhibit decreased uterus diameter compared to in wild-type mice
• however, uterus length is normal
|
|
|
• the ventral and dorsal-lateral prostates contain fewer ductal tips, branches, and points compared to in wild-type prostates
• however, prostate weight is normal
|
|
|
• the seminiferous tubules are atrophic and degenerating with disorganized epithelial unlike in wild-type mice
|
|
|
• at 3 months of age
|
|
|
• stromal proliferation, specifically of fibroblasts, in the ventral prostate is less than in wild-type mice
• while markers of fibroblast cells are decreased, expression of smooth muscle cell markers is increased in the prostate compared to in wild-type mice
• however, epithelial proliferation is normal
|
|
|
• mice exhibit large dilated, hemorrhagic cysts unlike wild-type mice
|
|
• mice exhibit increased subcutaneous fat accumulation compared to in wild-type mice
|
|
• 2-fold higher in male mice than in wild-type mice
|
|
|
• the ventral and dorsal-lateral prostates contain fewer ductal tips, branches, and points compared to in wild-type prostates
• however, prostate weight is normal
|
|
|
• ovaries have fewer interstitial compartments and greater number of atretic follicles compared to in wild-type mice
|
|
|
• granulosa cell thickness in antral follicles is decreased compared to in wild-type mice
|
|
|
• folliculogenesis only progresses into the antral stage
|
|
|
• mice exhibit large dilated, hemorrhagic cysts unlike wild-type mice
|
|
|
• the seminiferous tubules are atrophic and degenerating with disorganized epithelial unlike in wild-type mice
|
|
|
• at 3 months of age
|
|
|
• stromal proliferation, specifically of fibroblasts, in the ventral prostate is less than in wild-type mice
• while markers of fibroblast cells are decreased, expression of smooth muscle cell markers is increased in the prostate compared to in wild-type mice
• however, epithelial proliferation is normal
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in the trunk region at E14.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Reduced body size in Raph1tm1.1Makr/Raph1tm1.1Makr Tmem163Tg(ACTB-cre)2Mrt/0 mice
|
• some mice die within 4 weeks of birth
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• in embryos, all motor axons are labeled with YFP
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• mice mated to null male mice exhibit loss of offspring prior to or immediately after birth
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice die postnatally
|
|
• growth retardation is seen at E18.5
|
|
• mice show cell-type specific ciliary abnormalities in chondrocytes, mouse embryonic fibroblasts (MEFs), and neocortical neurons, but not in epithelial cells or cerebellar granule cells
• decrease in the number of cells bearing primary cilium in the cerebral cortex, including the Tbr1-expressing cortical intermediate progenitors at E18.5
• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos
• MEFs exhibit unchanged primary cilia length but show a reduced ciliation frequency
• however, normal prevalence of ciliation is seen in Pax6-expressing granule cell precursors in the cerebellar anlage and in E-cadherin-expressing epithelial cells lining the dermal layer
|
|
• craniofacial anomalies are seen at E18.5
|
|
• E12.5 embryos have an aberrant posterior neural tube
|
|
• 85.7% prevalence of polysyndactyly is seen at E12.5
|
|
• E12.5 embryos have an aberrant posterior neural tube
|
|
• embryos exhibit a range of brain anomalies, varying from mild to severe, at E18.5
|
|
• milder cases of brain anomalies include altered pattern of the cerebellar anlage at E18.5
|
|
• milder cases of brain anomalies display thinning and mis-patterning of the cerebral cortex
|
|
• milder cases of brain anomalies display thinning of the cerebral cortex
|
|
• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos
|
|
• E12.5 embryos have missing or abnormal eyes
|
|
• some E12.5 embryos have missing eyes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Carpenter syndrome 1 | DOID:0061098 |
OMIM:201000 |
J:371856 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• fewer than expected mice are produced in the absence of maternal and zygotic Dppa2 and Dppa4 expression with high lethality by P3
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• fewer than expected mice are produced in the absence of maternal and zygotic Dppa2 and Dppa4 expression with high lethality by P3
• however, female mice mated to wild-type male mice exhibit embryos that develop normal blastocysts
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice show lower activity overall compared to controls
|
|
• mice are arrhythmic in constant darkness whereas cre-negative floxed mice are rhythmic under 12-12h light dark conditons and constant darkness
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no heterozygotes are found at birth but are present at E8.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E14.5, 50% of heterozygotes show outflow tract (OFT) rotational defects (OFT fails to align with the two future ventricles at the looping stage), including DORV and overriding aorta
• however, OFT septation is normal; no aberrant right subclavian artery or common arterial trunk are identified at E14.5
|
|
• at E14.5
|
|
• at E14.5
|
|
• at E14.5, 75% of heterozygotes exhibit a perimembranous VSD
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• MII oocytes are poorly developed
|
|
• reduced polar body extrusion
|
|
• half of cultured oocytes arrest at the germinal vesicle, meiosis I, or anaphase I stages
• MII oocytes progress to the two-cell stage without DNA synthesis
|
|
• infertility cannot be rescued by intracytoplasmic sperm injection
|
|
• MII oocytes are poorly developed
|
|
• reduced polar body extrusion
|
|
• half of cultured oocytes arrest at the germinal vesicle, meiosis I, or anaphase I stages
• MII oocytes progress to the two-cell stage without DNA synthesis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• accumulation of smooth endoplasmic reticulum in nodal-paranodal regions
|
|
• septate junction septa in sciatic nerves become more diffuse, most lacking electron dense granules at 1 month of age
• septa in sciatic nerves are diffuse and fuzzy at 3 months
• axolemma becomes detached from the myelin loops where septa are missing in the spinal cord
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the formation of the distinct paranode domain in the sciatic nerve or in CNS myelinated fibers is perturbed with Caspr (Cntnap1) protein not remaining localized to the paranodal region
• shaker-type potassium channels and Caspr2 (Cntnap2) protein are redistributed from the juxtaparanode to the paranodal space
• however, voltage gated sodium channels and ankrynG remain enriched at the nodes, similar to controls
• Schwann cell-expressed gliomedin and EBP50 remains localized to the nodes suggesting that the Ig5-6 do not participate in the association, organization or stabilization of the Schwann cell microvilli or the related proteins at the node
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no embryos survive past E10.5
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 10/07/2025 MGI 6.24 |
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