Phenotypes associated with this allele

• Allele Symbol: Br
• Allele Name: brachyrrhine
• Allele ID: MGI:1856675
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Br/Br	involves: 101/H * C3H/HeH	MGI:4367271
ht2	Br/Br^+	involves: 101/H * C3H/HeH	MGI:2658769

Genotype
MGI:4367271

hm1

• Allelic Composition: Br/Br
• Genetic Background: involves: 101/H * C3H/HeH

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

mortality/aging

perinatal lethality, complete penetrance ( J:71108 )

neonatal lethality, complete penetrance ( J:47869 )

• mice survive through the fetal period but die soon after birth, most likely as a result of severe facial clefting

craniofacial

abnormal secondary palate development ( J:47869 )

• although distribution of extracellular matrix (ECM) molecules such as fibronectin, laminin, and type IV collagen within the palatal shelves is relatively unaffected, tenascin-C is prominently expressed below the presumptive medial epithelial seam (MES) in wild-type fetuses and below the medial epithelial edge (MEE) during cleft palate formation

palatal shelves fail to meet at midline ( J:47869 )

• palatal shelves do not elevate or come into contact and no medial epithelial seam (MES) ever forms

persistence of medial edge epithelium during palatal shelf fusion ( J:47869 )

• at E18, the vertically oriented non-fused palatal shelves display an intact medial epithelial edge (MEE)

decreased palatal shelf size ( J:47869 )

• smaller vertical palatal shelves are observed at E14 and E15

midface hypoplasia ( J:47869 )

• newborns display marked midfacial retrusion

cleft secondary palate ( J:47869 )

failure of palatal shelf elevation ( J:47869 )

• fetuses retain short, vertically oriented palatal shelves between E14 and E15, with no signs of horizontalization or subsequent fusion

midline facial cleft ( J:47869 )

• frontonasal dysplasia with severe midfacial clefting is observed by E12

growth/size/body

abnormal secondary palate development ( J:47869 )

• although distribution of extracellular matrix (ECM) molecules such as fibronectin, laminin, and type IV collagen within the palatal shelves is relatively unaffected, tenascin-C is prominently expressed below the presumptive medial epithelial seam (MES) in wild-type fetuses and below the medial epithelial edge (MEE) during cleft palate formation

palatal shelves fail to meet at midline ( J:47869 )

• palatal shelves do not elevate or come into contact and no medial epithelial seam (MES) ever forms

persistence of medial edge epithelium during palatal shelf fusion ( J:47869 )

• at E18, the vertically oriented non-fused palatal shelves display an intact medial epithelial edge (MEE)

decreased palatal shelf size ( J:47869 )

• smaller vertical palatal shelves are observed at E14 and E15

midface hypoplasia ( J:47869 )

• newborns display marked midfacial retrusion

cleft secondary palate ( J:47869 )

failure of palatal shelf elevation ( J:47869 )

• fetuses retain short, vertically oriented palatal shelves between E14 and E15, with no signs of horizontalization or subsequent fusion

midline facial cleft ( J:47869 )

• frontonasal dysplasia with severe midfacial clefting is observed by E12

kidney cyst ( J:71108 )

• kidneys have a rough surface consistent with formation of multifocal cysts in underlying tubules

polycystic kidney ( J:71108 )

• disease is evident at E15

renal/urinary system

abnormal kidney vasculature morphology ( J:71108 )

• at E13 cortical blood vessels are largely absent compared with normal embryos

kidney cyst ( J:71108 )

• kidneys have a rough surface consistent with formation of multifocal cysts in underlying tubules

polycystic kidney ( J:71108 )

• disease is evident at E15

abnormal kidney cortex morphology ( J:71108 )

• absence of a discernable renal cortex

abnormal kidney development ( J:71108 )

• normal induction steps are seen until E11.5 when severe disruption of nephrogenesis occurs following failure of normal peritubular mesenchymal condensation leaving the metanephric mesenchyme abnormally loose

• kidneys of E13 fetuses lack peritubular condensations, are small and deficit in tubule number; cortical blood vessels are not seen

• kidneys of E15 fetuses lack the expected cortical blood vessel, peripheral nephrogenic zone and extensive branching pattern; cysts are evident

renal hypoplasia ( J:71108 )

• progressive hypooplasia results in a kidney the size of an adrenal gland

abnormal nephron morphology ( J:71108 )

• generalized glomerulopathy is seen in the developing embryo

dilated renal tubule ( J:71108 )

• renal tube enlargement is obviosu by E15 with subsequent development of polycystic kidney disease

dilated proximal convoluted tubule ( J:71108 )

• newborn kidneys show severely distended proximal tubules

cardiovascular system

abnormal kidney vasculature morphology ( J:71108 )

• at E13 cortical blood vessels are largely absent compared with normal embryos

digestive/alimentary system

abnormal secondary palate development ( J:47869 )

• although distribution of extracellular matrix (ECM) molecules such as fibronectin, laminin, and type IV collagen within the palatal shelves is relatively unaffected, tenascin-C is prominently expressed below the presumptive medial epithelial seam (MES) in wild-type fetuses and below the medial epithelial edge (MEE) during cleft palate formation

palatal shelves fail to meet at midline ( J:47869 )

• palatal shelves do not elevate or come into contact and no medial epithelial seam (MES) ever forms

persistence of medial edge epithelium during palatal shelf fusion ( J:47869 )

• at E18, the vertically oriented non-fused palatal shelves display an intact medial epithelial edge (MEE)

decreased palatal shelf size ( J:47869 )

• smaller vertical palatal shelves are observed at E14 and E15

cleft secondary palate ( J:47869 )

failure of palatal shelf elevation ( J:47869 )

• fetuses retain short, vertically oriented palatal shelves between E14 and E15, with no signs of horizontalization or subsequent fusion

Genotype
MGI:2658769

ht2

• Allelic Composition: Br/Br⁺
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

premature death ( J:13450 )

• mutants die at early maturity

craniofacial

abnormal craniofacial bone morphology ( J:15489 )

• all craniofacial variables are significantly smaller in mutant mice compared with normal mice

abnormal basicranium morphology ( J:15489 )

• data reveals sagittal growth deficiency in the anterior cranial base

abnormal neurocranium morphology ( J:15489 )

• the top but not the back of the cranium is rounded compared with normal mice

long incisors ( J:15489 )

• due to malocclusion; if left untrimmed, incisors continue to grow and eventually curve inward, piercing the oral tissues and preventing ingestion

abnormal tooth wear ( J:15489 )

• incisors do not wear down during mastication, presumably due to incisal malocclusion

malocclusion ( J:15489 )

• this condition is chronic and teeth must be cut on a regular basis to allow mice to eat

• this condition allows accurate identification of adult mutant mice

small mandibular condyloid process ( J:15489 )

• condyles and necks of mutant mice are typically smaller and thinner compared with normal mice

abnormal mandibular coronoid process morphology ( J:15489 )

• processes of mutant mice are smaller and shorter while projecting superiorly rather than posterosuperiorly as in control mice

small mandibular coronoid process ( J:15489 )

short mandibular coronoid process ( J:15489 )

small mandible ( J:15489 )

short premaxilla ( J:15489 )

midface hypoplasia ( J:15489 , J:47869 )

• all facial bones are shortened (J:15489)

• newborns display some midfacial shortening (J:47869)

midline cleft upper lip ( J:13450 , J:47869 )

• deeper than usual midline cleft of the upper lip (J:13450)

• newborns display evidence of median cleft lip (J:47869)

decreased palatal length ( J:15489 )

short snout ( J:13450 )

• noticeable at birth

growth/size/body

long incisors ( J:15489 )

• due to malocclusion; if left untrimmed, incisors continue to grow and eventually curve inward, piercing the oral tissues and preventing ingestion

abnormal tooth wear ( J:15489 )

• incisors do not wear down during mastication, presumably due to incisal malocclusion

malocclusion ( J:15489 )

• this condition is chronic and teeth must be cut on a regular basis to allow mice to eat

• this condition allows accurate identification of adult mutant mice

midface hypoplasia ( J:15489 , J:47869 )

• all facial bones are shortened (J:15489)

• newborns display some midfacial shortening (J:47869)

midline cleft upper lip ( J:13450 , J:47869 )

• deeper than usual midline cleft of the upper lip (J:13450)

• newborns display evidence of median cleft lip (J:47869)

decreased palatal length ( J:15489 )

short snout ( J:13450 )

• noticeable at birth

kidney cyst ( J:71108 )

• kidneys of newborns have a rough and irregular surface indicative of multifocal cyst formation in underlying tubules

decreased body size ( J:13450 )

renal/urinary system

abnormal kidney morphology ( J:13450 )

• few glomeruli

kidney cyst ( J:71108 )

• kidneys of newborns have a rough and irregular surface indicative of multifocal cyst formation in underlying tubules

absent kidney cortex ( J:71108 )

small kidney ( J:13450 )

pale kidney ( J:13450 )

skeleton

abnormal craniofacial bone morphology ( J:15489 )

• all craniofacial variables are significantly smaller in mutant mice compared with normal mice

abnormal basicranium morphology ( J:15489 )

• data reveals sagittal growth deficiency in the anterior cranial base

abnormal neurocranium morphology ( J:15489 )

• the top but not the back of the cranium is rounded compared with normal mice

long incisors ( J:15489 )

• due to malocclusion; if left untrimmed, incisors continue to grow and eventually curve inward, piercing the oral tissues and preventing ingestion

abnormal tooth wear ( J:15489 )

• incisors do not wear down during mastication, presumably due to incisal malocclusion

malocclusion ( J:15489 )

• this condition is chronic and teeth must be cut on a regular basis to allow mice to eat

• this condition allows accurate identification of adult mutant mice

small mandibular condyloid process ( J:15489 )

• condyles and necks of mutant mice are typically smaller and thinner compared with normal mice

abnormal mandibular coronoid process morphology ( J:15489 )

• processes of mutant mice are smaller and shorter while projecting superiorly rather than posterosuperiorly as in control mice

small mandibular coronoid process ( J:15489 )

short mandibular coronoid process ( J:15489 )

small mandible ( J:15489 )

short premaxilla ( J:15489 )

digestive/alimentary system

decreased palatal length ( J:15489 )