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Allele Symbol Allele Name Allele ID |
Hcfc1em1Poche endonuclease-mediated mutation 1, Ross Poche MGI:6860324 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 25% of adults exhibit a belly spot
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• about 25% of adults exhibit a belly spot
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable
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• 2 of 3 adult mice exhibit craniofacial dysmorphia
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• mice exhibit a tilted nasal angle
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• 1 of 11 adults shows a white belly spot
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• 1 of 11 adults shows a white belly spot
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• mice exhibit a tilted nasal angle
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• homeotic transformation is seen in 1 of 6 mutants at E16.5
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• mice exhibit a tilted nasal angle
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• mice exhibit a tilted nasal angle
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• homeotic transformation is seen in 1 of 6 mutants at E16.5
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• mice are non-viable
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• a kinked tail is seen in 2 of 6 mutants at E16.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit partial lethality, with fewer (3.6%) than the expected (12.5%) numbers seen at weaning
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• the craniofacial dysmorphia seen in Hcfc1em1Poche/Y mice, especially for the more severely affected frontal and nasal bone surface area and width, are not improved
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N |
• mice exhibit normal plasma methylmalonic acid and homocysteine levels, indicating rescue of the inborn error of cobalamin metabolism
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only 3 viable mice were obtained out of 11 litters
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• mice are smaller than single mutant heterozygotes
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• mice exhibit a dramatic expansion of the white bell spot compared to single mutant heterozygotes
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• 2 of the 3 mice have shorter tails than single Rpl24 heterozygotes
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• mice exhibit a dramatic expansion of the white bell spot compared to single mutant heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• male progeny are underrepresented by about 50% at weaning; males at normal ratios are recovered at E16.5 and P0, indicating that half of mice die postnatally prior to weaning
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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• some mice exhibit mild midfacial hypoplasia and some mice show severe midfacial hypoplasia
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• mice exhibit a shortened facial profile as they mature postnatally
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• mice exhibit an upward curvature of the snout as they mature postnatally
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• mice are slightly runted during embryogenesis
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• surviving mice remain runted postnatally
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• shape changes show that skulls fall into three categories: 1) no changes in skull shape, 2) mild midfacial hypoplasia with a reduction in dimensions of the snout and midface, 3) severe midfacial hypoplasia and unilateral deviations away from the midline
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• average surface area of the frontal bone is smaller
• however, frontal bone width is unchanged
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• average area of the parietal bones is smaller
• however, parietal bone length is unchanged
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
|
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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• some mice exhibit mild midfacial hypoplasia and some mice show severe midfacial hypoplasia
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• mice exhibit a shortened facial profile as they mature postnatally
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• mice exhibit an upward curvature of the snout as they mature postnatally
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• a subset of mice exhibit thinning of the ventricular myocardium at E18.5
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• mice are slightly runted during embryogenesis
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• a subset of mice show reduced red blood cell numbers
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• a subset of mice show reduced hematocrits
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• a subset of mice show reduced hemoglobin levels
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• plasma amino acid levels are elevated in adults
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• MEFs exhibit a reduction in the functional activity of methionine synthase and methylmalonyl-CoA mutase
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• about 33% of adults exhibit a belly spot
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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• a subset of mice exhibit thinning of the ventricular myocardium at E18.5
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• subset of mice exhibit thinning of the cerebral cortex at E18.5
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• about 33% of adults exhibit a belly spot
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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• shape changes show that skulls fall into three categories: 1) no changes in skull shape, 2) mild midfacial hypoplasia with a reduction in dimensions of the snout and midface, 3) severe midfacial hypoplasia and unilateral deviations away from the midline
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• average surface area of the frontal bone is smaller
• however, frontal bone width is unchanged
|
|
|
• average area of the parietal bones is smaller
• however, parietal bone length is unchanged
|
|
|
• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
|
|
|
• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
|
|
|
• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
|
|
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| methylmalonic acidemia and homocysteinemia cblX type | DOID:0111814 |
OMIM:309541 |
J:317822 | |
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 06/12/2024 MGI 6.13 |
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